Cardiovascular Diseases Category (2109 diseases)


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

# Family MCID Name MIFTS
1 CRD180 Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma 53
2 P ART106 Arterial Calcification, Generalized, of Infancy, 1 48
3 BRK012 Broken Heart Syndrome 42
4 MTC208 Mitochondrial Complex Iv Deficiency, Nuclear Type 2 33
5 ART109 Arterial Thoracic Outlet Syndrome 24
6 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 32
7 RTN235 Retinal Vasculopathy with Cerebral Leukodystrophy with Systemic Manifestations 17
8 CMB025 Combined Oxidative Phosphorylation Deficiency 10 38
9 MTC209 Mitochondrial Complex Iv Deficiency, Nuclear Type 6 24
10 MTC210 Mitochondrial Complex Iv Deficiency, Nuclear Type 9 17
11 SLH001 Salih Myopathy 38
12 P CRN133 Coronary Artery Disease, Autosomal Dominant, 1 27
13 c ART102 Arterial Calcification, Generalized, of Infancy, 2 25
14 MTC211 Mitochondrial Complex Iv Deficiency, Nuclear Type 13 20
15 CRN268 Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis 24
16 ABR001 Aberrant Subclavian Artery 22
17 MCR066 Microcephaly-Cardiomyopathy 21
18 VNF001 Vein of Galen Aneurysm 18
19 TMM013 Tmem70 Defect 17
20 P GCH001 Gaucher's Disease 69
21 c GCH015 Gaucher Disease, Type I 67
22 c GCH016 Gaucher Disease, Type Ii 53
23 c GCH017 Gaucher Disease, Type Iii 52
24 c GCH013 Gaucher Disease, Type Iiic 39
25 GRN034 Grange Syndrome 35
26 ACT060 Acute Vascular Insufficiency of Intestine 29
27 CNJ005 Conjunctival Vascular Disease 14
28 c PSD023 Pseudo-Gaucher Disease 10
29 CRD137 Cardiogenic Shock 56
30 c MYP072 Myopathy, Myofibrillar, 1 55
31 c MYP078 Myopathy, Myofibrillar, 3 51
32 c MYP079 Myopathy, Myofibrillar, 5 48
33 c MYP080 Myopathy, Myofibrillar, 4 43
34 c MYP081 Myopathy, Myofibrillar, 6 42
35 PLY183 Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome 41
36 c MYP082 Myopathy, Myofibrillar, 2 40
37 c MYP119 Myopathy, Myofibrillar, 7 33
38 c MYP118 Myopathy, Myofibrillar, 8 31
39 INF158 Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations 30
40 c MYF011 Myofibrillar Myopathy 10 22
41 c MYF012 Myofibrillar Myopathy 11 18
42 c GLY008 Glycogen Storage Disease Ii 72
43 c GLY060 Glycogen Storage Disease Ia 62
44 c GLY004 Glycogen Storage Disease V 62
45 c GLY003 Glycogen Storage Disease Iii 60
46 c GLY005 Glycogen Storage Disease Vi 59
47 P GLY013 Glycogen Storage Disease 59
48 c GLY007 Glycogen Storage Disease Iv 58
49 c GLY011 Glycogen Storage Disease Vii 54
50 c GLY098 Glycogen Storage Disease, Type Ixd 45
51 c GLY097 Glycogen Storage Disease Ixb 44
52 c GLY016 Glycogen Storage Disease Ib 41
53 c GLY009 Glycogen Storage Disease Xv 39
54 c GLY044 Glycogen Storage Disease Ixc 37
55 c GLY006 Glycogen Storage Disease Viii 34
56 c GLY057 Glycogen Storage Disease X 34
57 GLY033 Glycogen Storage Disease of Heart, Lethal Congenital 33
58 c GLY043 Glycogen Storage Disease Xii 33
59 c CRN214 Coronary Heart Disease 5 30
60 c GLY017 Glycogen Storage Disease Ic 30
61 c GLY023 Glycogen Storage Disease Type 0 27
62 c GLY093 Glycogen Storage Disease Ixa 26
63 c GLY059 Glycogen Storage Disease Xiii 26
64 c GLY001 Glycogen Storage Disease Ix 25
65 VSC052 Vasculitis, Lymphocytic, Nodular 23
66 CRD240 Cardiomyopathy, Dilated, with Woolly Hair, Keratoderma, and Tooth Agenesis 23
67 c CRN304 Coronary Artery Disease, Autosomal Dominant 2 20
68 CRD023 Cardiomyopathy Cataract Hip Spine Disease 18
69 SPR007 Superior Mesenteric Artery Syndrome 36
70 MTC037 Mitochondrial Phosphate Carrier Deficiency 35
71 LGH013 Leigh Syndrome with Cardiomyopathy 29
72 FBR090 Fibro-Adipose Vascular Anomaly 16
73 GLY109 Glycogen Storage Disease with Hypertrophic Cardiomyopathy 4
74 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 62
75 c MTC055 Mitochondrial Dna Depletion Syndrome 4b 54
76 c MTC054 Mitochondrial Dna Depletion Syndrome 7 53
77 c MTC063 Mitochondrial Dna Depletion Syndrome 3 51
78 c MTC060 Mitochondrial Dna Depletion Syndrome 9 51
79 c MTC059 Mitochondrial Dna Depletion Syndrome 5 49
80 c MTC061 Mitochondrial Dna Depletion Syndrome 1 49
81 c MTC058 Mitochondrial Dna Depletion Syndrome 6 48
82 P MTC010 Mitochondrial Dna Depletion Syndrome 46
83 ELS001 Eales Disease 46
84 c MTC062 Mitochondrial Dna Depletion Syndrome 2 44
85 c MTC088 Mitochondrial Dna Depletion Syndrome 13 43
86 c MTC065 Mitochondrial Dna Depletion Syndrome 8a 41
87 c MTC078 Mitochondrial Dna Depletion Syndrome 11 38
88 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 29
89 c MTC138 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive 26
90 c MTC182 Mitochondrial Dna Depletion Syndrome 16 25
91 VSC001 Vascular Myelopathy 24
92 c MTC129 Mitochondrial Dna Depletion Syndrome 15 23
93 c MTC139 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant 23
94 c MTC204 Mitochondrial Dna Depletion Syndrome 18 21
95 c MTC213 Mitochondrial Dna Depletion Syndrome 19 21
96 c MTC200 Mitochondrial Dna Depletion Syndrome 17 20
97 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 19
98 c MTC014 Mitochondrial Dna Deletion Syndromes 16
99 c MLT169 Multiple Mitochondrial Dna Deletion Syndrome 9
100 c MCR256 Microphthalmia, Syndromic 9 60
101 c MCR241 Microphthalmia, Syndromic 3 56
102 c MCR261 Microphthalmia, Syndromic 2 50
103 c MCR263 Microphthalmia, Syndromic 1 49
104 c MCR251 Microphthalmia, Syndromic 6 48
105 c MCR245 Microphthalmia, Syndromic 8 46
106 c PRS122 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 39
107 c MCR312 Microphthalmia, Syndromic 10 39
108 c MCR252 Microphthalmia, Syndromic 5 38
109 P SYN165 Syndromic Microphthalmia 34
110 c MCR228 Microphthalmia, Syndromic 13 30
111 c MCR212 Microphthalmia, Syndromic 12 28
112 ALL002 Allergic Cutaneous Vasculitis 24
113 c MCR217 Microphthalmia, Syndromic 11 23
114 INT095 Internal Carotid Agenesis 16
115 CRD022 Cardiomyopathy and Deafness Due to Trna Lysine Gene Mutation 5
116 P CRN300 Coronary Heart Disease 1 73
117 FML293 Familial Isolated Restrictive Cardiomyopathy 42
118 MDN008 Median Arcuate Ligament Syndrome 37
119 FTL068 Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency 35
120 VSC004 Vasculogenic Impotence 29
121 P ADP010 Adiponectin, Serum Level of, Quantitative Trait Locus 1 27
122 TRG022 Triglyceride Deposit Cardiomyovasculopathy 19
123 c CRN174 Coronary Heart Disease 2 19
124 c CRN178 Coronary Heart Disease 6 18
125 c CRN177 Coronary Heart Disease 7 17
126 c CRN172 Coronary Heart Disease 3 15
127 PRP097 Prepapillary Vascular Loops 15
128 c CRN175 Coronary Heart Disease 4 14
129 PRM285 Primitive Portal Vein Thrombosis 14
130 ANP015 Anophthalmia Megalocornea Cardiopathy Skeletal Anomalies 14
131 c CRN176 Coronary Heart Disease 9 13
132 c CRN173 Coronary Heart Disease 8 13
133 c PRM166 Primary Interstitial Lung Disease Specific to Childhood Due to Pulmonary Surfactant Protein Anomalies 12
134 CRD018 Cardioauditory Syndrome of Sanchez Cascos 10
135 c ADP008 Adiponectin, Serum Level of, Quantitative Trait Locus 2 8
136 c ADP009 Adiponectin, Serum Level of, Quantitative Trait Locus 3 8
137 P INT354 Interstitial Lung Disease Specific to Childhood 8
138 c ADP011 Adiponectin, Serum Level of, Quantitative Trait Locus 4 8
139 c ADP012 Adiponectin, Serum Level of, Quantitative Trait Locus 5 8
140 DPC001 Deep Corneal Vascularisation 8
141 KSZ001 Kasznica Carlson Coppedge Syndrome 8
142 P INT353 Interstitial Lung Disease in Childhood and Adulthood 7
143 c SCN079 Secondary Interstitial Lung Disease in Childhood and Adulthood 6
144 MTC194 Mitochondrial Disease with Hypertrophic Cardiomyopathy 6
145 DDN026 Duodenojejunal Atresia with Volvulus, Absent Dorsal Mesentery, and Absent Superior Mesenteric Artery 6
146 c PRM308 Primary Interstitial Lung Disease in Childhood and Adulthood 6
147 SCN070 Secondary Interstitial Lung Disease in Childhood and Adulthood Associated with a Systemic Vasculitis 4
148 SCN075 Secondary Interstitial Lung Disease Specific to Childhood Associated with a Systemic Vasculitis 4
149 c PRM309 Primary Interstitial Lung Disease in Childhood and Adulthood Due to Alveolar Structure Disorder 4
150 c PRM310 Primary Interstitial Lung Disease in Childhood and Adulthood Due to Alveolar Vascular Disorder 4
151 c PRM311 Primary Interstitial Lung Disease Specific to Childhood Due to Alveolar Structure Disorder 4
152 c PRM312 Primary Interstitial Lung Disease Specific to Childhood Due to Alveolar Vascular Disorder 4
153 CNG570 Congenital Disorder of Glycosylation with Dilated Cardiomyopathy 4
154 P ADM011 Adams-Oliver Syndrome 60
155 c ADM005 Adams-Oliver Syndrome 1 40
156 c ADM010 Adams-Oliver Syndrome 5 33
157 c MTC126 Mitochondrial Dna Depletion Syndrome 14 31
158 SBC014 Subclavian Steal Syndrome 30
159 c ADM012 Adams-Oliver Syndrome 6 24
160 CMB072 Combined Oxidative Phosphorylation Deficiency 28 23
161 CTR188 Cataract 46, Juvenile-Onset, with or Without Arrhythmic Cardiomyopathy 22
162 DBL004 Double Discordia 20
163 KRT019 Keratitis, Hereditary 66
164 PLC005 Placental Insufficiency 55
165 CRD178 Cardiac Conduction Disease with or Without Dilated Cardiomyopathy 40
166 CNZ009 Coenzyme Q10 Deficiency, Primary, 5 37
167 c ADM007 Adams-Oliver Syndrome 2 33
168 MTC150 Mitochondrial Complex V Deficiency, Mitochondrial Type 1 29
169 PHC006 Phacomatosis Pigmentovascularis 29
170 MYT019 May-Thurner Syndrome 27
171 HRT018 Heart-Hand Syndrome, Slovenian Type 23
172 CTN025 Cutaneous Collagenous Vasculopathy 22
173 VSC064 Vascular Parkinsonism 20
174 P CRD249 Cardioacrofacial Dysplasia 2 16
175 c CRD248 Cardioacrofacial Dysplasia 1 14
176 PRP050 Peripheral Arterial Occlusive Disease 1 11
177 CRD247 Cardiofacioneurodevelopmental Syndrome 10
178 CNG172 Congenital Vascular Cavernous Malformations 4
179 VSC022 Vascular Erectile Tumor 4
180 VLC001 Velocardiofacial Syndrome 57
181 ANL018 Analbuminemia 53
182 P LPR012 Leopard Syndrome 1 48
183 HPT025 Hepatic Lipase Deficiency 47
184 PLM184 Pulmonary Arterial Hypertension Associated with Congenital Heart Disease 42
185 CRB086 Cerebral Aneurysms 40
186 c LPR011 Leopard Syndrome 2 35
187 DXR001 Doxorubicin Induced Cardiomyopathy 32
188 NNT024 Neonatal Stroke 31
189 CMB049 Combined Oxidative Phosphorylation Deficiency 17 30
190 LMN005 Lmna-Related Cardiocutaneous Progeria Syndrome 28
191 EXT051 Extracranial Arteriovenous Malformation 26
192 c ADM009 Adams-Oliver Syndrome 4 26
193 c LPR007 Leopard Syndrome 3 26
194 PLM186 Pulmonary Arterial Hypertension Associated with Portal Hypertension 25
195 MYM015 Moyamoya Disease 6 with or Without Achalasia 24
196 CRD235 Cardioneuromyopathy with Hyaline Masses and Nemaline Rods 24
197 c ADM008 Adams-Oliver Syndrome 3 23
198 CRR012 Cirrhotic Cardiomyopathy 22
199 P CRT085 Carotid Intimal Medial Thickness 2 22
200 VNS012 Venous Thoracic Outlet Syndrome 19
201 CRD009 Cardioencephalomyopathy 19
202 HRT033 Heart-Hand Syndrome, Spanish Type 16
203 FBR024 Fibrocartilaginous Embolism 15
204 ISL156 Isolated Splenic Vein Thrombosis 12
205 PLM188 Pulmonary Arterial Hypertension Associated with Another Disease 12
206 c CRT043 Carotid Intimal Medial Thickness 1 12
207 MSX002 Mesoaxial Hexadactyly and Cardiac Malformation 12
208 HMP031 Hemophilia a with Vascular Abnormality 11
209 PRT124 Portal Vein, Cavernous Transformation of 11
210 UNC021 Unclassified Cardiomyopathy 11
211 P CHY007 Chylomicronemia, Familial, Due to Circulating Inhibitor of Lipoprotein Lipase 10
212 ENC053 Encephalopathy, Axonal, with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 10
213 DST099 Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature 10
214 SPL069 Splenoportal Vascular Anomalies 9
215 SPL064 Splenomegaly Syndrome with Splenic Germinal Center Hypoplasia and Reduced Circulating T Helper Cells 9
216 ATX044 Ataxia, Deafness, and Cardiomyopathy 9
217 PRT256 Portosinusoidal Vascular Disease 9
218 HYP747 Hypertaurinuric Cardiomyopathy 8
219 CNG566 Congenital Vascular Bone Syndrome 8
220 ANT033 Anterior Spinal Artery Stroke 8
221 PNC121 Pancytopenia and Occlusive Vascular Disease 8
222 CRD230 Cardiomyopathy Associated with Myopathy and Sudden Death 8
223 ECT028 Ectrodactyly Cardiopathy Dysmorphism 8
224 ERY052 Erythrokeratodermia-Cardiomyopathy Syndrome 8
225 INT315 Internal Carotid Artery, Spontaneous Dissection of 7
226 INT317 Internal Carotid Arteries, Hypoplasia of 7
227 SYN114 Syndrome Associated with Hypertrophic Cardiomyopathy 7
228 VNL003 Venular Insufficiency, Systemic 7
229 LVT002 Levotransposition of the Great Arteries 7
230 PPK001 Piepkorn Karp Hickok Syndrome 6
231 SYN113 Syndrome Associated with Dilated Cardiomyopathy 6
232 RRR005 Rare Retinal Vasculopathy 5
233 PTT068 Pituitary Hormone Deficiency of Vascular Origin 4
234 VSC051 Vascular Helix of Umbilical Cord 4
235 VNS014 Veins, Pattern of, on Anterior Thorax 4
236 PLY002 Polyneuropathy in Collagen Vascular Disease 4
237 CNG063 Congenital Cardiovascular Shunt 4
238 ISL157 Isolated Mesenteric Vein Thrombosis 4
239 c FML359 Familial Chylomicronemia Due to Inhibition of Lipoprotein Lipase Activity 3
240 RRC021 Rare Central Nervous System and Retinal Vascular Disease 3
241 GNT146 Genetic Complex Vascular Malformation with Associated Anomalies 3
242 CRB207 Cerebral Diseases of Vascular Origin with Epilepsy 3
243 GNT080 Genetic Central Nervous System and Retinal Vascular Disease 3
244 RRG032 Rare Genetic Vascular Tumor 3
245 SYS079 Systemic Vasculitis Associated with Glomerulopathy 3
246 RRG047 Rare Genetic Retinal Vasculopathy 3
247 LPT004 Lipoatrophy with Diabetes, Hepatic Steatosis, Cardiomyopathy, and Leukomelanodermic Papules 2
248 MTC193 Mitochondrial Disease with Dilated Cardiomyopathy 2
249 FTT009 Fatty Acid Oxidation and Ketogenesis Disorder with Dilated Cardiomyopathy 2
250 FTT010 Fatty Acid Oxidation and Ketogenesis Disorder with Hypertrophic Cardiomyopathy 2
251 LYS025 Lysosomal Disease with Hypertrophic Cardiomyopathy 2
252 LYS026 Lysosomal Disease with Restrictive Cardiomyopathy 2
253 CRD029 Cardiomyopathy Hypogonadism Metabolic Anomalies 2
254 CRD020 Cardiofacial Syndrome Short Limbs 1
255 CRD021 Cardiomelic Syndrome Stratton Koehler Type 1
256 CRD030 Cardiomyopathy Spherocytosis 1
257 CLF007 Cleft Lip and Palate Malrotation Cardiopathy 1
258 SPS017 Spastic Angina with Healthy Coronary Artery 1
259 STR067 Stroke, Ischemic 79
260 FBR012 Fabry Disease 71
261 P CRD224 Cardiofaciocutaneous Syndrome 1 71
262 P MYC007 Myocardial Infarction 69
263 CNG034 Congestive Heart Failure 69
264 ART016 Aortic Aneurysm 68
265 P TMP003 Temporal Arteritis 68
266 ANG054 Angina Pectoris 65
267 P CTS001 Cutis Laxa 64
268 CNG510 Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 63
269 CRD223 Cardiac Arrhythmia 63
270 INT002 Intermittent Claudication 61
271 c PSD114 Pseudohypoaldosteronism, Type I, Autosomal Recessive 60
272 STR039 Sturge-Weber Syndrome 60
273 P PLY017 Polyarteritis Nodosa 59
274 P SHR029 Short Syndrome 59
275 c LNG047 Long Qt Syndrome 2 59
276 P ATR010 Atrial Heart Septal Defect 58
277 TRP006 Tarp Syndrome 58
278 P MTR012 Mitral Valve Disease 57
279 HYP266 Hypoxia 56
280 RHM028 Rheumatic Heart Disease 55
281 c ACT075 Acute Myocardial Infarction 55
282 LMB062 Limb Ischemia 55
283 P VNS003 Venous Insufficiency 54
284 EBS001 Ebstein Anomaly 54
285 ATR057 Atrioventricular Block 54
286 END020 Endocardial Fibroelastosis 53
287 P VSC013 Visceral Heterotaxy 53
288 PRC013 Pericarditis 53
289 INT007 Intermediate Coronary Syndrome 53
290 ART074 Aortic Dissection 53
291 P MTR003 Mitral Valve Stenosis 53
292 HNN001 Hennekam Syndrome 53
293 c LNG048 Long Qt Syndrome 3 52
294 ATH001 Athabaskan Brainstem Dysgenesis Syndrome 52
295 c MTR002 Mitral Valve Insufficiency 51
296 TLN003 Telangiectasis 51
297 P PRC012 Pericardial Effusion 50
298 P CMP008 Compartment Syndrome 49
299 c NNN028 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 49
300 HRT011 Heart Septal Defect 49
301 SYS003 Systolic Heart Failure 49
302 ART017 Aortic Disease 49
303 P RNV001 Renovascular Hypertension 48
304 P TRC087 Tricuspid Valve Disease 48
305 DBT006 Diabetic Macular Edema 48
306 LFT001 Left Bundle Branch Hemiblock 47
307 RGH001 Right Bundle Branch Block 47
308 c TRC022 Tricuspid Valve Insufficiency 46
309 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 46
310 ART004 Aortic Atherosclerosis 46
311 P CRC039 Coarctation of Aorta 46
312 MCR216 Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation 46
313 THR013 Thoracic Outlet Syndrome 45
314 CRB008 Cerebral Atherosclerosis 45
315 MYC005 Myocardial Stunning 45
316 DST006 Diastolic Heart Failure 45
317 HRT008 Heart Conduction Disease 45
318 c SHR030 Short Qt Syndrome 44
319 ANC002 Anca-Associated Vasculitis 44
320 CRD001 Cardiac Tamponade 44
321 c FML294 Familial Short Qt Syndrome 44
322 c ANT085 Anterior Segment Dysgenesis 5 44
323 HYP034 Hypertensive Encephalopathy 43
324 c LNG098 Long Qt Syndrome 14 43
325 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 43
326 THR099 Third-Degree Atrioventricular Block 42
327 GNR003 Generalized Atherosclerosis 42
328 P HRT035 Heart Block, Congenital 42
329 P STN012 Sting-Associated Vasculopathy, Infantile-Onset 42
330 ART012 Aortitis 41
331 P ATR066 Atrial Septal Defect 2 41
332 c LNG056 Long Qt Syndrome 12 41
333 c BRG007 Brugada Syndrome 5 41
334 c CTS031 Cutis Laxa, Autosomal Dominant 2 41
335 HNZ004 Heinz Body Anemias 40
336 c ATR062 Atrial Septal Defect 1 40
337 ANG062 Angioosteohypertrophic Syndrome 40
338 CRN020 Coronary Restenosis 39
339 FRS012 First-Degree Atrioventricular Block 39
340 CNS002 Constrictive Pericarditis 39
341 c LNG046 Long Qt Syndrome 11 39
342 ACT056 Acute Cor Pulmonale 39
343 c CNG404 Congenital Heart Defects, Multiple Types, 4 39
344 CPL005 Capillary Disease 37
345 HRT006 Heart Aneurysm 36
346 INT020 Intravenous Leiomyomatosis 35
347 PRC005 Pericardial Tuberculosis 35
348 c MLG003 Malignant Renovascular Hypertension 35
349 MBT001 Mobitz Type Ii Atrioventricular Block 35
350 PLV004 Pelvic Varices 35
351 TRC007 Tricuspid Valve Prolapse 35
352 P ANT001 Anterolateral Myocardial Infarction 34
353 SCN049 Second-Degree Atrioventricular Block 34
354 c VNT027 Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 33
355 MLD002 Mild Pre-Eclampsia 33
356 INF013 Inferior Myocardial Infarction 33
357 HST004 Histiocytoid Hemangioma 33
358 SLN001 Silent Myocardial Infarction 33
359 DRS001 Dressler's Syndrome 32
360 RTN004 Retinal Microaneurysm 32
361 c SHR032 Short Qt Syndrome 2 32
362 P GLM006 Glomangioma 32
363 c NNN025 Noonan Syndrome 10 32
364 SPT002 Septicemic Plague 32
365 SPN031 Supine Hypotensive Syndrome 31
366 c EXD007 Exudative Vitreoretinopathy 3 31
367 KSH001 Keshan Disease 31
368 c BRG006 Brugada Syndrome 2 31
369 TRC021 Tricuspid Valve Stenosis 31
370 c PST106 Post-Cardiac Arrest Syndrome 31
371 c ATR023 Atrial Septal Defect 5 30
372 ANR010 Aneurysm of Sinus of Valsalva 30
373 c SHR033 Short Qt Syndrome 3 30
374 c EXD010 Exudative Vitreoretinopathy 6 30
375 c ATR031 Atrial Septal Defect 4 30
376 c CNG388 Congenital Disorder of Glycosylation, Type Iw 30
377 c ATR022 Atrial Septal Defect 3 29
378 SCL017 Sclerosing Hemangioma 29
379 RTN019 Retinal Telangiectasia 29
380 LTR004 Lateral Myocardial Infarction 29
381 STR005 Stork Bite 28
382 c ATR034 Atrial Septal Defect 6 28
383 c VNT028 Ventricular Septal Defect 1 28
384 CRB014 Cerebral Angioma 28
385 c SHR031 Short Qt Syndrome 1 28
386 HYP717 Hypotonia, Infantile, with Psychomotor Retardation 27
387 P CRB210 Cerebrofacial Arteriovenous Metameric Syndrome 27
388 CBB002 Cobb Syndrome 27
389 RTR006 Retroperitoneal Hemangiopericytoma 27
390 c SYS066 Systemic Polyarteritis Nodosa 26
391 UNV002 Univentricular Heart 26
392 END074 Endocardium Disease 26
393 c BRG010 Brugada Syndrome 8 26
394 HMN008 Hemangioma of Subcutaneous Tissue 25
395 ANT005 Anteroseptal Myocardial Infarction 25
396 INT337 Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies 25
397 BLT003 Blue Toe Syndrome 25
398 LTM001 Lutembacher's Syndrome 25
399 c ACT052 Acute Anterolateral Myocardial Infarction 25
400 HBN001 Hobnail Hemangioma 25
401 ART015 Aortic Valve Prolapse 24
402 c TRN053 Transient Pseudohypoaldosteronism 24
403 FDL001 Fiedler's Myocarditis 24
404 c JVN019 Juvenile Temporal Arteritis 24
405 c EFM001 Efemp2-Related Cutis Laxa 23
406 INT062 Interstitial Myocarditis 23
407 MNC003 Monckeberg Arteriosclerosis 23
408 c CNG521 Congenital Heart Defects, Multiple Types, 5 23
409 TXC010 Toxic Myocarditis 23
410 ATR019 Atrial Septal Defect Sinus Venosus 23
411 SPT003 Septic Myocarditis 23
412 INT074 Intracranial Arteriosclerosis 23
413 ATY002 Atypical Choroid Plexus Papilloma 23
414 ATR055 Atrial Septal Aneurysm 23
415 WRF006 Warfarin Sensitivity, X-Linked 23
416 SBN001 Subendocardial Myocardial Infarction 22
417 DSC003 Discrete Subaortic Stenosis 22
418 HRT002 Heart Fibrosarcoma 21
419 ATM103 Autoimmune Atherosclerosis 20
420 CNV001 Conventional Angiosarcoma 19
421 VRR008 Verrucous Hemangioma 19
422 c PRC052 Pericardial Effusion, Chronic 19
423 c CNG578 Congenital Hemangioma 18
424 VNS002 Venous Hemangioma 18
425 c CNG385 Congenital Heart Defects, Multiple Types, 3 18
426 INT056 Intravascular Angioleiomyoma 17
427 CNG347 Congenital Tricuspid Stenosis 17
428 INT077 Intracranial Structure Hemangioma 17
429 WHT005 White Forelock with Malformations 17
430 CNG491 Congenital Portosystemic Shunt 17
431 PST017 Posterolateral Myocardial Infarction 17
432 APC001 Apical Myocardial Infarction 16
433 ART091 Aorto-Ventricular Tunnel 16
434 ACT051 Acute Inferolateral Myocardial Infarction 16
435 P CNG600 Congenital Arteriovenous Fistula 15
436 SPT001 Septal Myocardial Infarction 15
437 c ANR050 Aneurysm, Intracranial Berry, 12 15
438 MSC086 Mesocardia 14
439 c BNG028 Benign Renovascular Hypertension 14
440 ACC011 Accessory Mitral Valve Tissue 13
441 INF012 Inferolateral Myocardial Infarct 13
442 JXT004 Juxtaposition of the Atrial Appendages 13
443 c ACQ026 Acquired Pseudoxanthoma Elasticum 13
444 ART097 Aorto-Left Ventricular Tunnel 12
445 c ANR024 Aneurysm, Intracranial Berry, 9 12
446 MND008 Mandibular Arteriovenous Malformation 12
447 c ART148 Arteriosclerosis, Severe Juvenile 12
448 c ANR030 Aneurysm, Intracranial Berry, 8 12
449 KYP001 Kyphoscoliotic Heart Disease 12
450 c PRM222 Primary Polyarteritis Nodosa 11
451 c PRS137 Persistent Hyperplastic Primary Vitreous, Autosomal Dominant 11
452 CRN207 Coronary Sinus Stenosis 10
453 GNN001 Genuine Diffuse Phlebectasia 10
454 FCL058 Facial Arteriovenous Malformation 10
455 PRC042 Parachute Tricuspid Valve 10
456 ART098 Aorto-Right Ventricular Tunnel 9
457 ART007 Aorta Atresia 9
458 PRS112 Persistent Eustachian Valve 9
459 CHR004 Chronic Rheumatic Pericarditis 8
460 BRS012 Breast Angiomatosis 8
461 HRT005 Heart Leiomyosarcoma 8
462 PST002 Posteroinferior Myocardial Infarction 8
463 CNG586 Congenital Tricuspid Valve Dysplasia 8
464 HST003 Histoplasmosis Pericarditis 8
465 DPN002 Deep Angioma 7
466 STR011 Strictly Posterior Acute Myocardial Infarction 7
467 PRC006 Pericardium Leiomyoma 6
468 c CRB128 Cerebrofacial Arteriovenous Metameric Syndrome Type 1 6
469 VSC036 Visceral Calciphylaxis 6
470 ECT057 Ectasia of the Right Atrial Appendage 6
471 CNG592 Congenital Aortic Valve Atresia 6
472 MDS001 Mediastinum Angiosarcoma 5
473 BNG024 Benign Pericardial Teratoma 5
474 SBN002 Subendocardial Infarction Acute Myocardial Infarction 5
475 PRT252 Partial Atrioventricular Septal Defect with Ventricular Hypoplasia 5
476 DBL013 Double Outlet Right Ventricle with Non-Committed Subpulmonary Ventricular Septal Defect 5
477 ACT050 Acute Inferoposterior Infarction 4
478 ATR095 Atrial Appendage Anomaly 4
479 STR075 Straddling or Overriding Tricuspid Valve 4
480 ABN010 Abnormal Number of Coronary Ostia 4
481 MLP009 Malposition of a Coronary Ostium 4
482 PRS139 Persistent Left Superior Vena Cava Connecting Through Coronary Sinus to Left-Sided Atrium 4
483 HYP506 Hypoplasia of the Mitral Valve Annulus 4
484 ASC011 Ascending Aorta Anomaly 4
485 CNG341 Congenital Anomaly of the Coronary Sinus 3
486 CNG360 Congenital Unguarded Mitral Orifice 3
487 HRT042 Heart Position Anomaly 3
488 NXS001 Naxos Disease 54
489 c DFN097 Deafness, Autosomal Recessive 1a 49
490 c DFN141 Deafness, Autosomal Recessive 12 46
491 c DFN136 Deafness, Autosomal Dominant 9 46
492 c DFN250 Deafness, Autosomal Recessive 2 45
493 c DFN133 Deafness, Autosomal Recessive 9 45
494 c DFN251 Deafness, Autosomal Dominant 11 44
495 c DFN200 Deafness, Autosomal Dominant 17 43
496 c DFN196 Deafness, Autosomal Dominant 22 43
497 c DFN197 Deafness, Autosomal Recessive 37 42
498 c DFN351 Deafness, Autosomal Dominant 6 42
499 c DFN354 Deafness, Autosomal Dominant 20 41
500 c DFN203 Deafness, Autosomal Recessive 30 41
501 c DFN098 Deafness, Autosomal Dominant 3a 41
502 c DFN139 Deafness, Autosomal Recessive 29 41
503 c DFN107 Deafness, Autosomal Dominant 10 40
504 c DFN247 Deafness, Autosomal Recessive 18a 40
505 c DFN103 Deafness, Autosomal Recessive 1b 40
506 c DFN170 Deafness, Autosomal Recessive 31 39
507 c DFN093 Deafness, Autosomal Recessive 23 39
508 c DFN128 Deafness, Autosomal Dominant 36 39
509 c DFN112 Deafness, Autosomal Recessive 63 39
510 c DFN127 Deafness, Autosomal Recessive 7 39
511 c DFN189 Deafness, Autosomal Dominant 25 39
512 c DFN353 Deafness, Autosomal Dominant 12 38
513 c DFN130 Deafness, Autosomal Recessive 21 38
514 c DFN092 Deafness, Autosomal Recessive 49 38
515 c DFN117 Deafness, Autosomal Dominant 15 37
516 c DFN102 Deafness, Autosomal Dominant 3b 37
517 c DFN190 Deafness, Autosomal Dominant 2a 37
518 c DFN269 Deafness, Autosomal Recessive 98 37
519 c DFN252 Deafness, Autosomal Recessive 24 37
520 c DFN108 Deafness, Autosomal Recessive 77 37
521 c DFN201 Deafness, Autosomal Recessive 3 37
522 c DFN352 Deafness, Autosomal Recessive 8 37
523 c DFN182 Deafness, Autosomal Recessive 71 36
524 c DFN143 Deafness, Autosomal Recessive 16 36
525 c DFN202 Deafness, Autosomal Dominant 48 36
526 c NNS007 Nonsyndromic Deafness 36
527 c ATS006 Autosomal Recessive Nonsyndromic Deafness 36
528 c DFN274 Deafness, Autosomal Dominant 56 36
529 c DFN262 Deafness, Autosomal Recessive 15 35
530 c DFN111 Deafness, Autosomal Recessive 35 35
531 c DFN280 Deafness, Autosomal Recessive 35
532 c DFN114 Deafness, Autosomal Recessive 67 35
533 c DFN124 Deafness, Autosomal Recessive 6 35
534 c DFN330 Deafness, Autosomal Recessive 97 35
535 c DFN244 Deafness, Autosomal Recessive 42 34
536 c DFN121 Deafness, Autosomal Recessive 28 34
537 c DFN155 Deafness, Autosomal Dominant 41 34
538 c DFN123 Deafness, Autosomal Recessive 79 34
539 c DFN259 Deafness, Autosomal Recessive 86 34
540 c DFN132 Deafness, Autosomal Recessive 22 34
541 c DFN360 Deafness, Autosomal Dominant 69 34
542 c DFN258 Deafness, Autosomal Recessive 48 33
543 c DFN278 Deafness, Autosomal Dominant 65 33
544 c DFN364 Deafness, Autosomal Recessive 57 33
545 c DFN138 Deafness, Autosomal Recessive 53 33
546 c DFN095 Deafness, Autosomal Recessive 25 32
547 c DFN188 Deafness, Autosomal Recessive 61 32
548 c DFN178 Deafness, Autosomal Recessive 59 32
549 c DFN260 Deafness, Autosomal Recessive 89 32
550 c DFN137 Deafness, Autosomal Dominant 13 32
551 c DFN119 Deafness, Autosomal Dominant 50 32
552 c DFN248 Deafness, Autosomal Recessive 18b 31
553 c DFN181 Deafness, Autosomal Recessive 66 31
554 c DFN120 Deafness, Autosomal Recessive 39 31
555 c DFN159 Deafness, Autosomal Dominant 5 31
556 c DFN192 Deafness, Autosomal Dominant 23 31
557 c DFN094 Deafness, Autosomal Dominant 28 31
558 c DFN163 Deafness, Autosomal Dominant 7 31
559 c ATS336 Autosomal Recessive Nonsyndromic Deafness 3 31
560 c DFN266 Deafness, Autosomal Dominant 4b 31
561 c DFN249 Deafness, Autosomal Recessive 93 30
562 c DFN135 Deafness, Autosomal Recessive 91 30
563 c DFN254 Deafness, Autosomal Recessive 84b 30
564 c DFN246 Deafness, Autosomal Dominant 51 30
565 c DFN116 Deafness, Autosomal Recessive 74 30
566 c DFN099 Deafness, Autosomal Dominant 2b 30
567 c DFN327 Deafness, Autosomal Dominant 70 29
568 c DFN284 Deafness, Autosomal Dominant 67 29
569 c DFN179 Deafness, Autosomal Recessive 62 29
570 c DFN267 Deafness, Autosomal Dominant 4a 29
571 c DFN277 Deafness, Autosomal Recessive 102 29
572 c DFN148 Deafness, Autosomal Dominant 16 28
573 c DFN253 Deafness, Autosomal Recessive 84a 28
574 c DFN375 Deafness, Autosomal Recessive 94 28
575 c DFN374 Deafness, Autosomal Recessive 100 28
576 c DFN118 Deafness, Autosomal Dominant 44 28
577 c DFN183 Deafness, Autosomal Recessive 83 27
578 c DFN255 Deafness, Autosomal Dominant 64 27
579 c DFN283 Deafness, Autosomal Recessive 104 27
580 c DFN168 Deafness, Autosomal Recessive 26 26
581 c DFN152 Deafness, Autosomal Dominant 27 26
582 c ATS380 Autosomal Recessive Nonsyndromic Deafness 36 25
583 c DFN160 Deafness, Autosomal Dominant 52 25
584 c DFN263 Deafness, Autosomal Recessive 68 25
585 c DFN173 Deafness, Autosomal Recessive 40 25
586 c DFN030 Deafness, Autosomal Recessive 55 25
587 c DFN149 Deafness, Autosomal Dominant 18 24
588 c DFN164 Deafness, Autosomal Recessive 13 24
589 c ATS005 Autosomal Dominant Nonsyndromic Deafness 24
590 c DFN150 Deafness, Autosomal Dominant 21 24
591 c DFN243 Deafness, Autosomal Recessive 88 24
592 c DFN158 Deafness, Autosomal Dominant 49 23
593 c DFN273 Deafness, Autosomal Recessive 101 23
594 c DFN361 Deafness, Autosomal Recessive 106 23
595 c DFN156 Deafness, Autosomal Dominant 43 23
596 c OTF001 Otof-Related Deafness 23
597 c DFN184 Deafness, Autosomal Recessive 85 23
598 c DFN166 Deafness, Autosomal Recessive 17 23
599 c DFN169 Deafness, Autosomal Recessive 27 23
600 c DFN151 Deafness, Autosomal Dominant 24 23
601 c DFN153 Deafness, Autosomal Dominant 30 23
602 c ATS409 Autosomal Recessive Nonsyndromic Deafness 32 23
603 c DFN134 Deafness, Autosomal Dominant 40 22
604 c DFN154 Deafness, Autosomal Dominant 31 22
605 c DFN367 Deafness, Autosomal Recessive 110 22
606 c DFN373 Deafness, Autosomal Recessive 113 22
607 c DFN272 Deafness, Autosomal Dominant 54 22
608 c DFN177 Deafness, Autosomal Recessive 5 22
609 c DFN378 Deafness, Autosomal Recessive 99 21
610 c DFN329 Deafness, Autosomal Dominant 66 21
611 c DFN257 Deafness, Autosomal Dominant 33 21
612 c DFN379 Deafness, Autosomal Dominant 37 21
613 P RRD005 Rare Deafness 20
614 c DFN265 Deafness, Autosomal Recessive 76 20
615 c DFN357 Deafness, Autosomal Recessive 47 20
616 c DFN242 Deafness, Autosomal Recessive 70 20
617 c DFN171 Deafness, Autosomal Recessive 33 20
618 c DFN336 Deafness, Autosomal Dominant 68 20
619 c DFN029 Deafness, Autosomal Recessive 51 20
620 c DFN281 Deafness, Autosomal Recessive 103 19
621 c DFN165 Deafness, Autosomal Recessive 14 19
622 c DFN157 Deafness, Autosomal Dominant 47 19
623 c DFN161 Deafness, Autosomal Dominant 53 19
624 c DFN240 Deafness, Autosomal Recessive 96 19
625 c DFN333 Deafness, Autosomal Dominant 73 19
626 c DFN369 Deafness, Autosomal Recessive 111 19
627 c DFN271 Deafness, Autosomal Dominant 58 18
628 c DFN167 Deafness, Autosomal Recessive 20 18
629 c DFN174 Deafness, Autosomal Recessive 44 18
630 c DFN365 Deafness, Autosomal Recessive 109 18
631 c DFN382 Deafness, Autosomal Dominant 76 18
632 c DFN328 Deafness, Autosomal Dominant 72 17
633 c DFN180 Deafness, Autosomal Recessive 65 17
634 c DFN335 Deafness, Autosomal Dominant 71 17
635 c DFN377 Deafness, Autosomal Recessive 115 17
636 c DFN371 Deafness, Autosomal Recessive 112 17
637 c DFN337 Deafness, Autosomal Recessive 107 17
638 c DFN325 Deafness, Autosomal Recessive 108 17
639 c DFN368 Deafness, Autosomal Dominant 74 17
640 c DFN385 Deafness, Autosomal Dominant 78 17
641 c DFN376 Deafness, Autosomal Recessive 114 16
642 c DFN261 Deafness, Autosomal Recessive 46 16
643 c DFN381 Deafness, Autosomal Dominant 75 16
644 c DFN390 Deafness, Autosomal Dominant 80 15
645 c DFN172 Deafness, Autosomal Recessive 38 15
646 c DFN162 Deafness, Autosomal Dominant 59 15
647 c FML056 Familial Deafness 15
648 c DFN383 Deafness, Autosomal Dominant 77 15
649 c DFN175 Deafness, Autosomal Recessive 45 14
650 c DFN387 Deafness, Autosomal Recessive 116 13
651 c DFN386 Deafness, Autosomal Dominant 79 13
652 c DFN388 Deafness, Autosomal Recessive 117 12
653 c ATS484 Autosomal Dominant Nonsyndromic Deafness 78 6
654 c ATS485 Autosomal Dominant Nonsyndromic Deafness 79 6
655 c ATS486 Autosomal Recessive Nonsyndromic Deafness 116 6
656 c ATS487 Autosomal Dominant Nonsyndromic Deafness 74 6
657 c ATS488 Autosomal Dominant Nonsyndromic Deafness 75 6
658 c ATS489 Autosomal Dominant Nonsyndromic Deafness 76 6
659 c ATS490 Autosomal Dominant Nonsyndromic Deafness 77 6
660 c ATS396 Autosomal Recessive Nonsyndromic Deafness 106 5
661 c ATS397 Autosomal Recessive Nonsyndromic Deafness 107 5
662 c ATS398 Autosomal Recessive Nonsyndromic Deafness 108 5
663 c ATS399 Autosomal Dominant Nonsyndromic Deafness 71 5
664 c ATS400 Autosomal Dominant Nonsyndromic Deafness 72 5
665 c ATS401 Autosomal Dominant Nonsyndromic Deafness 73 5
666 c ATS402 Autosomal Dominant Nonsyndromic Deafness 34 5
667 MTC179 Mitochondrial Dna-Related Cardiomyopathy and Hearing Loss 16
668 P EMR001 Emery-Dreifuss Muscular Dystrophy 62
669 c EMR018 Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant 54
670 c EMR020 Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive 44
671 c EMR015 Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant 41
672 c EMR014 Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant 40
673 UNL013 Unilateral Absence of a Pulmonary Artery 20
674 BNF003 Bone Fragility with Contractures, Arterial Rupture, and Deafness 24
675 P HYP768 Hyperlipoproteinemia, Type I 67
676 c HYP724 Hyperlipoproteinemia, Type Iii 66
677 c HYP740 Hyperlipoproteinemia, Type V 54
678 c HYP739 Hyperlipoproteinemia, Type Iv 53
679 c HYP819 Hyperlipoproteinemia, Type Id 25
680 PLM068 Pulmonary Vein Stenosis 39
681 HRT015 Heritable Pulmonary Arterial Hypertension 46
682 VSC009 Vascular Skin Disease 14
683 SXH002 Sex Hormone-Binding Globulin Circulating Level Quantitative Trait Locus 9
684 ASP030 Aspirin Resistance 41
685 CMB014 Combined Oxidative Phosphorylation Deficiency 3 37
686 MCR207 Microcornea Posterior Megalolenticonus Persistent Fetal Vasculature Coloboma 17
687 MND006 Mondor Disease 17
688 IMM243 Immunodeficiency 80 with or Without Congenital Cardiomyopathy 12
689 FML304 Familial Isolated Dilated Cardiomyopathy 50
690 P PRS062 Persistent Hyperplastic Primary Vitreous 48
691 IDP092 Idiopathic/heritable Pulmonary Arterial Hypertension 44
692 P FML279 Familial Isolated Arrhythmogenic Right Ventricular Dysplasia 32
693 RNL089 Renal Nutcracker Syndrome 29
694 ALG026 Al-Gazali Syndrome 27
695 c FML213 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form 25
696 EPD067 Epidermolysis Bullosa Simplex, Generalized, with Scarring and Hair Loss 20
697 ART027 Aorta-Pulmonary Artery Fistula 16
698 FML325 Familial Cervical Artery Dissection 13
699 FML086 Familial Pulmonary Arterial Hypertension Leucopenia and Atrial Septal Defect 8
700 HYP492 Hypertrophic Cardiomyopathy and Renal Tubular Disease Due to Mitochondrial Dna Mutation 6
701 MLG026 Male Genital Organ Vascular Disease 5
702 VSC023 Vasculitis Syndromes of the Central and Peripheral Nervous Systems 3
703 ISC020 Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension 53
704 P LNR013 Linear Skin Defects with Multiple Congenital Anomalies 1 52
705 HPT077 Hepatic Venoocclusive Disease with Immunodeficiency 40
706 PGD001 Pagod Syndrome 26
707 c LNR016 Linear Skin Defects with Multiple Congenital Anomalies 2 25
708 c LNR014 Linear Skin Defects with Multiple Congenital Anomalies 3 24
709 P NTR004 Neutropenia 62
710 c LPD015 Lipodystrophy, Familial Partial, Type 2 61
711 c SVR003 Severe Congenital Neutropenia 59
712 P FML012 Familial Partial Lipodystrophy 54
713 c NTR049 Neutropenia, Severe Congenital, 3, Autosomal Recessive 51
714 c HYP841 Hypoalphalipoproteinemia, Primary, 1 50
715 c LPD021 Lipodystrophy, Familial Partial, Type 3 45
716 c LPD019 Lipodystrophy, Partial, Acquired 43
717 P HYP121 Hypoalphalipoproteinemia 42
718 c LPD034 Lipodystrophy, Familial Partial, Type 4 42
719 c LPD030 Lipodystrophy, Familial Partial, Type 5 40
720 c ATS483 Autosomal Dominant Severe Congenital Neutropenia 38
721 c NTR050 Neutropenia, Severe Congenital, 4, Autosomal Recessive 38
722 c NTR047 Neutropenia, Severe Congenital, 1, Autosomal Dominant 37
723 RHM014 Rheumatoid Vasculitis 36
724 c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 36
725 c LPD036 Lipodystrophy, Familial Partial, Type 6 33
726 c LPD040 Lipodystrophy, Familial Partial, Type 1 32
727 DLF001 Dieulafoy Lesion 31
728 CLF044 Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 30
729 c NTR054 Neutropenia, Severe Congenital, 8, Autosomal Dominant 28
730 c ABD013 Abdominal Obesity-Metabolic Syndrome 3 28
731 c NTR051 Neutropenia, Severe Congenital, 2, Autosomal Dominant 27
732 c NTR044 Neutropenia, Severe Congenital, 7, Autosomal Recessive 26
733 c NTR034 Neutropenia, Severe Congenital, 6, Autosomal Recessive 26
734 c LPD044 Lipodystrophy, Familial Partial, Type 7 25
735 IRV001 Irvan Syndrome 23
736 c NTR045 Neutropenia, Chronic Familial 21
737 NRD115 Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and Brain Abnormalities 21
738 c SVR107 Severe Congenital Neutropenia 3 20
739 c SVR103 Severe Congenital Neutropenia 1 20
740 c ATS450 Autosomal Recessive Severe Congenital Neutropenia 18
741 MTC227 Mitochondrial Complex Iv Deficiency, Nuclear Type 20 18
742 c SVR110 Severe Congenital Neutropenia 4 16
743 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 15
744 c SVR106 Severe Congenital Neutropenia 5 14
745 c ELN001 Elane-Related Neutropenia 14
746 c ACQ053 Acquired Neutropenia 12
747 c SVR109 Severe Congenital Neutropenia 8 11
748 c SVR105 Severe Congenital Neutropenia 2 10
749 c SVR108 Severe Congenital Neutropenia 6 9
750 c SVR104 Severe Congenital Neutropenia 7 8
751 c HYP836 Hypercholesterolemia, Familial, 1 73
752 c FML021 Familial Hypercholesterolemia 71
753 P VNW001 Von Willebrand's Disease 64
754 P ABD014 Abdominal Obesity-Metabolic Syndrome 1 62
755 ACH005 Achalasia 54
756 c VNW010 Von Willebrand Disease, Type 2 50
757 VTR010 Vitreoretinochoroidopathy 49
758 c HYP840 Hypercholesterolemia, Familial, 4 48
759 c ACQ017 Acquired Von Willebrand Syndrome 48
760 c VNW008 Von Willebrand Disease, Type 3 47
761 c HYP837 Hypercholesterolemia, Familial, 2 46
762 c HYP272 Hypercholesterolemia, Familial, 3 46
763 PRT014 Protein S Deficiency 46
764 P BRB001 Beriberi 44
765 CNZ010 Coenzyme Q10 Deficiency, Primary, 7 41
766 c PSD048 Pseudo-Von Willebrand Disease 40
767 P TTR031 Tetraamelia Syndrome 35
768 NST002 Nestor-Guillermo Progeria Syndrome 35
769 CHR067 Chronic Intestinal Vascular Insufficiency 34
770 MCH011 Meacham Syndrome 34
771 CMB054 Combined Oxidative Phosphorylation Deficiency 23 31
772 CYL001 Cayler Cardiofacial Syndrome 28
773 c DRY002 Dry Beriberi 27
774 c TTR028 Tetraamelia Syndrome 1 27
775 PLM189 Pulmonary Arterial Hypertension Associated with Connective Tissue Disease 26
776 c TTR029 Tetraamelia Syndrome 2 24
777 FML214 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form 23
778 FML215 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form 23
779 P PLM064 Pulmonary Sequestration 22
780 MGR035 Migraine with Brainstem Aura 22
781 VSC014 Vascular Hyalinosis 20
782 CLF042 Cleft Lip/palate with Characteristic Facies, Intestinal Malrotation, and Lethal Congenital Heart Disease 18
783 PLM053 Pulmonary Artery Agenesis 13
784 BRS103 Bier Spots 12
785 TBL024 Tubular Renal Disease-Cardiomyopathy Syndrome 12
786 PGM031 Pgm3-Congenital Disorder of Glycosylation 11
787 DFN340 Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease 11
788 c CNG257 Congenital Pulmonary Sequestration 10
789 PLM187 Pulmonary Arterial Hypertension Associated with Schistosomiasis 9
790 DRG027 Drug- or Toxin-Induced Pulmonary Arterial Hypertension 9
791 PLM185 Pulmonary Arterial Hypertension Associated with Hiv Infection 8
792 CRD031 Cardiomyopathy, Fatal Fetal, Due to Myocardial Calcification 8
793 CLC062 Celiac Artery Stenosis from Compression by Median Arcuate Ligament of Diaphragm 8
794 KSH002 Kashani Strom Utley Syndrome 7
795 PLM191 Pulmonary Arterial Hypertension Associated with Chronic Hemolytic Anemia 7
796 P NNF006 Non-Familial Dilated Cardiomyopathy 6
797 VSC057 Vasculitis, Lymphocytic, Cutaneous Small Vessel 5
798 RVL001 Ruvalcaba Churesigaew Myhre Syndrome 5
799 P RRH027 Rare Hypercholesterolemia 5
800 NNF005 Non-Familial Restrictive Cardiomyopathy 4
801 CNG560 Congenital Pulmonary Artery Branch Stenosis 4
802 GNT088 Genetic Skin Vascular Disorder 3
803 RRP005 Rare Pediatric Vasculitis 3
804 c NNF010 Non-Familial Rare Disease with Dilated Cardiomyopathy 3
805 PLM054 Pulmonary Artery Coming from the Aorta 3
806 NRM020 Neuromuscular Disease with Dilated Cardiomyopathy 3
807 NNF004 Non-Familial Hypertrophic Cardiomyopathy 3
808 PLM055 Pulmonary Artery Familial Dilatation 2
809 CRD024 Cardiomyopathy Diabetes Deafness 2
810 c HYP595 Hypertension, Essential 84
811 c DLT002 Dilated Cardiomyopathy 79
812 P NNN008 Noonan Syndrome 1 76
813 VNH007 Von Hippel-Lindau Syndrome 72
814 c NRF023 Neurofibromatosis, Type Ii 70
815 P BRG001 Brugada Syndrome 69
816 GRN037 Granulomatosis with Polyangiitis 66
817 c LNG044 Long Qt Syndrome 1 66
818 CHR103 Charge Syndrome 65
819 c PRG042 Progressive Familial Heart Block, Type Ia 65
820 P HYP055 Hypoplastic Left Heart Syndrome 65
821 LPP008 Lipoprotein Quantitative Trait Locus 65
822 c PRC016 Pre-Eclampsia 64
823 PTR032 Peters-Plus Syndrome 63
824 P PRT008 Proteus Syndrome 63
825 VTR013 Vitreoretinopathy, Neovascular Inflammatory 62
826 P HMN010 Hemangioma 61
827 CHR001 Churg-Strauss Syndrome 61
828 WLL001 Williams-Beuren Syndrome 60
829 RHM001 Rheumatic Fever 59
830 PRT013 Portal Hypertension 59
831 KLP010 Klippel-Trenaunay-Weber Syndrome 59
832 ART035 Arterial Calcification of Infancy 58
833 P HMN036 Hemangiopericytoma, Malignant 56
834 c BRG005 Brugada Syndrome 1 56
835 INT030 Intracranial Aneurysm 55
836 P ATR001 Atrioventricular Septal Defect 54
837 CPL003 Capillary Leak Syndrome 54
838 PRP080 Peripheral Artery Disease 54
839 c PRG043 Progressive Familial Heart Block, Type Ib 54
840 c CNT016 Central Retinal Vein Occlusion 53
841 P ART021 Arteriosclerosis 53
842 HRT012 Heart Valve Disease 53
843 c PSD047 Pseudo-Turner Syndrome 52
844 ART140 Arteries, Anomalies of 52
845 INT276 Interatrial Communication 52
846 c NNN010 Noonan Syndrome 3 51
847 P PST095 Post-Thrombotic Syndrome 51
848 CRN030 Coronary Stenosis 50
849 PLM041 Pulmonary Valve Stenosis 50
850 DNT045 Dental Anomalies and Short Stature 50
851 RYN001 Raynaud Disease 49
852 HYP006 Hypertensive Heart Disease 48
853 GLM008 Glomus Tumor 48
854 INT010 Intracranial Embolism 48
855 c CHR431 Chronic Venous Insufficiency 48
856 VRC001 Varicocele 48
857 SNT005 Sinoatrial Node Disease 48
858 c NNN011 Noonan Syndrome 4 47
859 DBT008 Diabetic Angiopathy 47
860 c GNT049 Giant Axonal Neuropathy 1, Autosomal Recessive 47
861 HMP001 Hemopericardium 47
862 CRD054 Cardiac Arrhythmia, Ankyrin-B-Related 47
863 CRN019 Coronary Artery Vasospasm 47
864 EHL061 Ehlers-Danlos Syndrome, Cardiac Valvular Type 46
865 BCK003 Background Diabetic Retinopathy 46
866 c CNG193 Congenital Disorder of Glycosylation, Type Ip 46
867 VSC006 Vascular Cancer 46
868 c BRG004 Brugada Syndrome 4 46
869 P PSD003 Pseudohypoaldosteronism 45
870 P RNL015 Renal Hypertension 45
871 c LNG051 Long Qt Syndrome 6 45
872 c PLM022 Pulmonary Valve Insufficiency 45
873 GLC084 Glaucoma, Normal Tension 45
874 P GNT009 Giant Axonal Neuropathy 44
875 c NNN027 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 43
876 DXT002 Dextrocardia with Situs Inversus 43
877 HRT007 Heart Cancer 43
878 P VND001 Vein Disease 42
879 CNZ006 Coenzyme Q10 Deficiency, Primary, 1 42
880 c EXD004 Exudative Vitreoretinopathy 4 42
881 CRN006 Coronary Aneurysm 41
882 c CHR096 Chronic Pulmonary Heart Disease 41
883 c LNG096 Long Qt Syndrome 15 41
884 c EXD006 Exudative Vitreoretinopathy 5 41
885 P PLM040 Pulmonary Valve Disease 40
886 ART008 Arteriosclerosis Obliterans 40
887 CHL073 Cholestasis-Lymphedema Syndrome 40
888 ART006 Arthus Reaction 40
889 MLT162 Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects 39
890 c LNG057 Long Qt Syndrome 13 39
891 c NNN009 Noonan Syndrome 2 39
892 c NNN020 Noonan Syndrome 7 39
893 CHL070 Cholesterol Embolism 39
894 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 38
895 c NNN012 Noonan Syndrome 5 37
896 c FML272 Familial Sick Sinus Syndrome 37
897 ANG016 Angiokeratoma 37
898 INT053 Intracranial Vasospasm 37
899 ART010 Arteriolosclerosis 37
900 ANG065 Angioma, Tufted 36
901 c INT059 Internal Hemorrhoid 36
902 SVR002 Severe Nonproliferative Diabetic Retinopathy 36
903 P PRM327 Primary Lymphedema 36
904 ATY022 Atypical Coarctation of Aorta 36
905 SHW001 Shwartzman Phenomenon 36
906 P ANT004 Anterior Cerebral Artery Infarction 36
907 c CRD219 Cardiomyopathy, Infantile Hypertrophic 34
908 NNT039 Neonatal Marfan Syndrome 34
909 c NNN013 Noonan Syndrome 6 34
910 c ATR065 Atrial Septal Defect 8 34
911 c ANT083 Anterior Segment Dysgenesis 7 34
912 NNN033 Noonan Syndrome and Noonan-Related Syndrome 34
913 P PRC050 Pericardium Disease 33
914 ACT032 Acute Hemorrhagic Leukoencephalitis 33
915 c SBC003 Subacute Bacterial Endocarditis 33
916 GLM001 Glomeruloid Hemangioma 32
917 HYP223 Hypoplastic Right Heart Syndrome 32
918 c NNN024 Noonan Syndrome 9 32
919 c PSD093 Pseudohypoaldosteronism, Type Iid 31
920 PDT004 Pediatric Angiosarcoma 31
921 INT013 Intramuscular Hemangioma 31
922 c RNL113 Renal Failure, Progressive, with Hypertension 31
923 SBV001 Subvalvular Aortic Stenosis 31
924 ANT013 Anterior Spinal Artery Syndrome 31
925 VRT003 Vertebrobasilar Insufficiency 31
926 c CNG439 Congenital Lymphedema 31
927 c HTR010 Heterotaxy, Visceral, 4, Autosomal 30
928 CRB005 Cerebral Arteritis 29
929 c BRG012 Brugada Syndrome 9 29
930 CRT008 Carotid Artery Dissection 29
931 PLM059 Pulmonary Atresia with Ventricular Septal Defect 29
932 SKN018 Skin Hemangioma 29
933 RCT008 Rectosigmoid Junction Neoplasm 29
934 INT084 Intrinsic Cardiomyopathy 29
935 SYN004 Synovial Angioma 29
936 VRT001 Vertebral Artery Occlusion 29
937 EXT035 Extrinsic Cardiomyopathy 29
938 HRT010 Heart Sarcoma 29
939 GLM002 Glomangiomatosis 29
940 ANG019 Angiomyoma 29
941 HTR001 Heterophyiasis 28
942 c HYP565 Hypogonadotropic Hypogonadism 3 with or Without Anosmia 28
943 P ACT080 Acute Pulmonary Heart Disease 28
944 c PRG101 Progressive Familial Heart Block, Type Ii 28
945 THR007 Thrombophlebitis Migrans 28
946 SBC002 Subclavian Artery Aneurysm 28
947 c HYP552 Hypogonadotropic Hypogonadism 6 with or Without Anosmia 28
948 FBL014 Fibular Hemimelia 28
949 c MYM004 Moyamoya Disease 2 27
950 PRN035 Perniosis 27
951 c NNN034 Noonan Syndrome 12 27
952 PRC014 Pericardium Cancer 27
953 PLM058 Pulmonary Atresia with Intact Ventricular Septum 27
954 c ATR056 Atrial Septal Defect 9 26
955 SPL005 Splenic Artery Aneurysm 26
956 c PSD068 Pseudohypoaldosteronism, Type Iic 26
957 SBN003 Subungual Glomus Tumor 25
958 c GNT045 Giant Axonal Neuropathy 2 25
959 MYM012 Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 25
960 CMB096 Combined Oxidative Phosphorylation Deficiency 40 25
961 c GNT040 Giant Axonal Neuropathy 2, Autosomal Dominant 25
962 ATR017 Atrial Septal Defect Coronary Sinus 25
963 PLM008 Pulmonary Subvalvular Stenosis 25
964 GLM003 Glomangiomyoma 24
965 CMP035 Complete Atrioventricular Canal 24
966 c NNN036 Noonan Syndrome 13 24
967 c HYP546 Hypogonadotropic Hypogonadism 20 with or Without Anosmia 24
968 CNT023 Central Nervous System Hemangioma 24
969 MSN003 Mesenteric Vascular Occlusion 24
970 INT034 Intracranial Cavernous Angioma 24
971 SKN010 Skin Epithelioid Hemangioma 23
972 c MYC058 Myocardial Infarction 2 23
973 c NNN029 Noonan Syndrome 11 23
974 c SCK022 Sick Sinus Syndrome 3 23
975 FBR099 Fibromuscular Dysplasia, Arterial 23
976 BRN027 Brain Angioma 23
977 OVR003 Ovarian Angiosarcoma 23
978 CRS011 Criss-Cross Heart 23
979 c ATR093 Atrial Heart Septal Defect 7 22
980 ATR018 Atrial Septal Defect Ostium Primum 22
981 PLM027 Pulmonary Embolism and Infarction 22
982 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 22
983 LYM125 Lymphedema, Cardiac Septal Defects, and Characteristic Facies 22
984 BSL005 Basal Ganglia Cerebrovascular Disease 22
985 SPN446 Spondylometaphyseal Dysplasia with Corneal Dystrophy 21
986 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 21
987 CNG009 Congenital Aortic Valve Stenosis 21
988 CRB202 Cerebrovascular Benign Neoplasm 20
989 ART013 Aortic Malignant Tumor 20
990 c ACQ004 Acquired Hemangioma 20
991 c PST001 Posterior Myocardial Infarction 20
992 GRM003 German Syndrome 20
993 c CRD244 Cardiomyopathy, Dilated, 2c 20
994 HMN011 Hemangioma of Intra-Abdominal Structure 20
995 CRT060 Cor Triatriatum Sinister 20
996 MTR027 Mitral Atresia 19
997 LVC002 Levocardia 19
998 c LYM155 Lymphatic Malformation 8 19
999 SGM010 Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome 19
1000 DFF027 Diffuse Lymphatic Malformation 19
1001 TRK001 Triokinase and Fmn Cyclase Deficiency Syndrome 19
1002 DBL007 Double Outlet Left Ventricle 18
1003 c LFT011 Left Ventricular Noncompaction 2 18
1004 ECT085 Ectopia Cordis 18
1005 SBR011 Subaortic Stenosis--Short Stature Syndrome 18
1006 c MLG144 Malignant Hemangioma 18
1007 CNG108 Congenital Mitral Stenosis 18
1008 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 17
1009 CNG609 Congenital Left Ventricular Aneurysm 17
1010 ANG067 Angioma, Hereditary Neurocutaneous 17
1011 KMM002 Kommerell Diverticulum 17
1012 c INF055 Infectious Myocarditis 17
1013 RTF001 Retiform Hemangioendothelioma 17
1014 c LDD009 Liddle Syndrome 3 17
1015 CRV066 Cervical Aortic Arch 16
1016 MYC003 Myocardium Cancer 16
1017 ATR084 Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects 15
1018 SHN001 Shone Complex 15
1019 CLF033 Cleft Mitral Valve 14
1020 c CTC003 Catecholaminergic Polymorphic Ventricular Tachycardia 5 14
1021 c ANR011 Aneurysm, Intracranial Berry, 2 14
1022 c CHR344 Chronic Orthostatic Intolerance 13
1023 PRM238 Primary Intralymphatic Angioendothelioma 13
1024 P AGR013 Age-Related Hearing Impairment 1 13
1025 c HTR012 Heterotaxy, Visceral, 3, Autosomal 13
1026 LRY034 Laryngotracheal Angioma 13
1027 c ANR022 Aneurysm, Intracranial Berry, 4 13
1028 c MYM005 Moyamoya Disease 3 12
1029 c ANR029 Aneurysm, Intracranial Berry, 6 12
1030 CNG519 Congenital Gerbode Defect 12
1031 RTN189 Retinal Capillary Malformation 12
1032 LBR027 Laubry-Pezzi Syndrome 12
1033 c ANR026 Aneurysm, Intracranial Berry, 5 12
1034 c ANR023 Aneurysm, Intracranial Berry, 7 12
1035 SKN017 Skin Glomangioma 11
1036 c ANR039 Aneurysm, Intracranial Berry, 11 11
1037 PRC055 Pericytoma with T(7;12) 11
1038 c HYP450 Hypertension, Essential 4 10
1039 c AGR014 Age-Related Hearing Impairment 2 10
1040 c ADL048 Adult Malignant Hemangiopericytoma 10
1041 PLR014 Pleuro-Pericardial Cyst 10
1042 PRT138 Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome 10
1043 CLF055 Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart Defect-Hearing Loss Syndrome 10
1044 c ATS065 Autosomal Dominant Coarctation of Aorta 10
1045 c HYP451 Hypertension, Essential 5 10
1046 c HYP454 Hypertension, Essential 8 10
1047 P BNG003 Benign Hypertensive Renal Disease 10
1048 SCR010 Scrotal Angioma 10
1049 ART003 Aorta Angiosarcoma 9
1050 ACC010 Accessory Tricuspid Valve Tissue 9
1051 HRT009 Heart Lipoma 9
1052 CLC050 Calciphylaxis Cutis 8
1053 TLN001 Telangiectatic Glomangioma 8
1054 MXL013 Maxillary Arteriovenous Malformation 7
1055 c CNG476 Congenital Systemic Arteriovenous Fistula 7
1056 END017 Endocardium Cancer 7
1057 VNS001 Venous Tributary Occlusion of Retina 7
1058 c HYP869 Hypertension Due to Gain-of-Function Mutations in the Mineralocorticoid Receptor 7
1059 CNG107 Congenital Mitral Malformation 6
1060 ART161 Aortic Malformation 6
1061 SPR002 Superior Vena Cava Angiosarcoma 6
1062 HRT001 Heart Malignant Hemangiopericytoma 6
1063 MLG043 Malignant Mediastinum Hemangiopericytoma 6
1064 MXD041 Mixed Cystic Lymphatic Malformation 6
1065 CMP105 Complete Atrioventricular Septal Defect Without Ventricular Hypoplasia 6
1066 VRR002 Verrucous Keratotic Hemangioma 5
1067 EPC003 Epicardium Lipoma 5
1068 DBL020 Double Outlet Right Ventricle with Subaortic or Doubly Committed Ventricular Septal Defect 5
1069 DSC011 Discrete Fibromuscular Subaortic Stenosis 5
1070 c FML158 Familial Hemangioma 5
1071 PRT253 Partial Atrioventricular Septal Defect Without Ventricular Hypoplasia 5
1072 UNV004 Univentricular Heart with Single Atrio-Ventricular Valve 5
1073 CNG353 Congenital Partial Agenesis of Pericardium 5
1074 CNG354 Congenital Complete Agenesis of Pericardium 5
1075 P PRM346 Primary Lymphedema Without Systemic or Visceral Involvement 4
1076 CNV005 Conventional Malignant Hemangiopericytoma 4
1077 PRN013 Perineural Angioma 4
1078 ATR096 Atrioventricular Valve Anomaly 4
1079 CRD212 Cardiac Anomalies-Heterotaxy Syndrome 4
1080 TRC084 Tricuspid Valve Agenesis 4
1081 CNG614 Congenital Primary Lymphedema of Gordon 4
1082 CMM026 Common Cystic Lymphatic Malformation 4
1083 c CLS057 Celsr1-Related Late-Onset Primary Lymphedema 4
1084 c GJC002 Gjc2-Related Late-Onset Primary Lymphedema 4
1085 ATH002 Atheroembolism of Kidney 3
1086 FRN038 Frontonasal Arteriovenous Malformation 3
1087 ANM023 Anomaly of the Tricuspid Subvalvular Apparatus 3
1088 STR076 Straddling and/or Overriding Mitral Valve 3
1089 MTR068 Mitral Valve Agenesis 3
1090 ANM025 Anomaly of the Mitral Subvalvular Apparatus 3
1091 c CNG612 Congenital Primary Lymphedema Without Systemic or Visceral Involvement 3
1092 c LTN028 Late-Onset Primary Lymphedema Without Systemic or Visceral Involvement 3
1093 PRM347 Primary Lymphedema with Systemic or Visceral Involvement 3
1094 RGH011 Right Pulmonary Artery, Anomalous Origin of, Familial 13
1095 CRD221 Cardiospondylocarpofacial Syndrome 43
1096 PLM101 Pulmonary Hypertension, Chronic Thromboembolic, Without Deep Vein Thrombosis 37
1097 CHR466 Chronic Thromboembolic Pulmonary Hypertension 47
1098 P ADL010 Adult Respiratory Distress Syndrome 70
1099 P MSC005 Muscular Dystrophy 66
1100 c MSC165 Muscular Dystrophy, Congenital, Lmna-Related 64
1101 CMR002 Coumarin Resistance 59
1102 ANT009 Antithrombin Iii Deficiency 59
1103 NNR004 Nonarteritic Anterior Ischemic Optic Neuropathy 57
1104 P MYT023 Myotonia Congenita 55
1105 MSC162 Muscular Dystrophy, Congenital Merosin-Deficient, 1a 55
1106 AGN012 Agnathia-Otocephaly Complex 52
1107 DYS165 Dysfibrinogenemia, Congenital 52
1108 P PRV002 Periventricular Nodular Heterotopia 52
1109 P MNT135 Mental Retardation, X-Linked, Syndromic 13 49
1110 GST012 Gastroesophageal Junction Adenocarcinoma 46
1111 c MYT029 Myotonia Congenita, Autosomal Recessive 41
1112 c PRV019 Periventricular Nodular Heterotopia 1 37
1113 c MYT027 Myotonia Congenita, Autosomal Dominant 37
1114 ISB001 Isobutyryl-Coa Dehydrogenase Deficiency 36
1115 c MSC050 Muscular Dystrophy, Congenital, 1b 36
1116 c CNG112 Congenital Muscular Dystrophy Type 1a 32
1117 c PRG106 Progressive Muscular Dystrophy 31
1118 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy 30
1119 c MNT298 Mental Retardation, X-Linked, Syndromic, 35 29
1120 c MNT296 Mental Retardation, X-Linked, Syndromic 34 29
1121 c FLN007 Flna-Related Periventricular Nodular Heterotopia 28
1122 c CNG441 Congenital Muscular Dystrophy Due to Dystroglycanopathy 28
1123 c MNT295 Mental Retardation, X-Linked, Syndromic 33 28
1124 c PRV018 Periventricular Nodular Heterotopia 7 26
1125 c MNT207 Mental Retardation, X-Linked, Syndromic 32 26
1126 c PRV022 Periventricular Nodular Heterotopia 9 24
1127 c MNT191 Mental Retardation, X-Linked, Syndromic 17 21
1128 c PRV021 Periventricular Nodular Heterotopia 8 20
1129 c ADL080 Adult Acute Respiratory Distress Syndrome 20
1130 c PRV016 Periventricular Nodular Heterotopia 6 19
1131 IMM200 Immunodeficiency 62 19
1132 SBC025 Subcortical Arteriosclerotic Encephalopathy 19
1133 c MNT197 Mental Retardation, X-Linked, Syndromic 9 19
1134 c PRV013 Periventricular Nodular Heterotopia 3 13
1135 DFN018 Deafness Peripheral Neuropathy Arterial Disease 2
1136 P HRT032 Heart Disease 84
1137 MRF001 Marfan Syndrome 76
1138 PRP027 Peripheral Vascular Disease 71
1139 c CRD086 Cardiomyopathy, Familial Hypertrophic, 1 69
1140 CST001 Costello Syndrome 68
1141 P MCR129 Microvascular Complications of Diabetes 1 67
1142 P OCL013 Oculodentodigital Dysplasia 66
1143 CRB039 Cerebrovascular Disease 65
1144 P LNG028 Long Qt Syndrome 63
1145 ATH013 Atherosclerosis Susceptibility 63
1146 P CRB048 Cerebral Cavernous Malformations 63
1147 PTN001 Patent Foramen Ovale 61
1148 ISC004 Ischemia 61
1149 P ART028 Aortic Aneurysm, Familial Thoracic 4 61
1150 c ART067 Aortic Aneurysm, Familial Thoracic 1 61
1151 P MYM013 Moyamoya Disease 1 59
1152 c HYP731 Hyperaldosteronism, Familial, Type I 59
1153 PRT058 Pure Autonomic Failure 58
1154 P END033 Endocarditis 58
1155 P VNT002 Ventricular Septal Defect 58
1156 P HYP535 Hypogonadotropic Hypogonadism 7 with or Without Anosmia 57
1157 VSC063 Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and Systemic Manifestations 57
1158 RGH009 Right Atrial Isomerism 57
1159 DBL002 Double Outlet Right Ventricle 56
1160 MCL006 Macular Retinal Edema 56
1161 NRF008 Neurofibromatosis-Noonan Syndrome 56
1162 END021 Endomyocardial Fibrosis 56
1163 P EXD001 Exudative Vitreoretinopathy 56
1164 THR024 Thrombosis 56
1165 P CRD246 Cardiovascular System Disease 55
1166 P SCK002 Sick Sinus Syndrome 55
1167 P ANT006 Antiphospholipid Syndrome 55
1168 DXT001 Dextrocardia 54
1169 GDP001 Goodpasture Syndrome 54
1170 c FML191 Familial Long Qt Syndrome 54
1171 PLM010 Pulmonary Edema 54
1172 P RST002 Restrictive Cardiomyopathy 54
1173 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies 53
1174 c CPL013 Capillary Malformations, Congenital 53
1175 INF034 Infective Endocarditis 53
1176 c EHL080 Ehlers-Danlos Syndrome, Musculocontractural Type, 1 53
1177 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 53
1178 HLL004 Hellp Syndrome 53
1179 P CPL006 Capillary Hemangioma 53
1180 HMN009 Hemangioblastoma 53
1181 c HMC035 Hemochromatosis, Type 4 52
1182 c CTS045 Cutis Laxa, Autosomal Dominant 1 52
1183 IMM240 Immunodeficiency 14a, Autosomal Dominant 52
1184 c MCR113 Microvascular Complications of Diabetes 3 52
1185 CRT016 Carotid Artery Disease 52
1186 MGL038 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome 52
1187 CRT013 Carotid Stenosis 51
1188 ESP002 Esophageal Varix 51
1189 CVR006 Cavernous Hemangioma 51
1190 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 50
1191 THR016 Thrombophlebitis 50
1192 ACT017 Acute Chest Syndrome 50
1193 PRT018 Portal Vein Thrombosis 50
1194 c SVR005 Severe Pre-Eclampsia 49
1195 c ATS393 Autosomal Recessive Cutis Laxa Type I 49
1196 c CNG389 Congenital Disorder of Glycosylation, Type Iim 49
1197 PLM070 Pulmonic Stenosis 49
1198 RPD005 Rapidly Involuting Congenital Hemangioma 48
1199 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 48
1200 c CRD065 Cardiomyopathy, Familial Hypertrophic, 2 48
1201 c ANT071 Anterior Segment Dysgenesis 4 48
1202 URN009 Urinary System Disease 48
1203 RTN003 Retinal Ischemia 48
1204 c CRD097 Cardiomyopathy, Dilated, 1d 47
1205 c CRD187 Cardiomyopathy, Dilated, 3b 47
1206 DYS032 Dystrophinopathies 47
1207 c MCR120 Microvascular Complications of Diabetes 7 47
1208 CRD231 Cardiomyopathy, Infantile Histiocytoid 47
1209 c HYP513 Hypogonadotropic Hypogonadism 1 with or Without Anosmia 47
1210 c ACT076 Acute Myocarditis 46
1211 P LYM024 Lymphatic System Disease 46
1212 RTN001 Retinal Vasculitis 46
1213 CRN017 Coronary Thrombosis 46
1214 CMP028 Complement Component 2 Deficiency 46
1215 CRB004 Cerebral Artery Occlusion 45
1216 RTN020 Retinal Vascular Disease 45
1217 c LNG050 Long Qt Syndrome 5 45
1218 CNT046 Central Nervous System Vasculitis 45
1219 CLC017 Calcification of Joints and Arteries 45
1220 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 45
1221 CRT015 Carotid Artery Occlusion 45
1222 P PHS005 Peho Syndrome 44
1223 CLN044 Colon Adenoma 44
1224 MLT073 Multisystemic Smooth Muscle Dysfunction Syndrome 44
1225 P RPD001 Rapidly Progressive Glomerulonephritis 43
1226 PLM052 Pulmonary Arteriovenous Malformation 43
1227 c LNG053 Long Qt Syndrome 9 43
1228 NNN022 Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia 43
1229 c CRD091 Cardiomyopathy, Dilated, 1dd 43
1230 c HYP753 Hypocalciuric Hypercalcemia, Familial, Type Ii 43
1231 c CRD105 Cardiomyopathy, Dilated, 1o 42
1232 c CNT028 Central Retinal Artery Occlusion 42
1233 c CRD080 Cardiomyopathy, Dilated, 1g 42
1234 ANG011 Angiodysplasia 42
1235 ALC010 Alcoholic Cardiomyopathy 42
1236 P CRD234 Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction 42
1237 c MCR112 Microvascular Complications of Diabetes 2 42
1238 c ART071 Aortic Aneurysm, Familial Thoracic 6 41
1239 OVR093 Overhydrated Hereditary Stomatocytosis 41
1240 BRN026 Branch Retinal Artery Occlusion 41
1241 c HYP647 Hypogonadotropic Hypogonadism 24 Without Anosmia 41
1242 RNL097 Renal Artery Disease 41
1243 c HYP763 Hypogonadotropic Hypogonadism 23 Without Anosmia 41
1244 GST020 Gastric Antral Vascular Ectasia 40
1245 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 40
1246 HMN035 Hemangioma-Thrombocytopenia Syndrome 39
1247 EXD009 Exudative Vitreoretinopathy 2, X-Linked 39
1248 c TRN038 Transposition of the Great Arteries, Dextro-Looped 1 39
1249 c ARR041 Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 39
1250 AKL001 Au-Kline Syndrome 38
1251 BRN036 Brain Stem Infarction 38
1252 c HTR021 Heterotaxy, Visceral, 5, Autosomal 38
1253 c CNG504 Congenital Disorder of Glycosylation, Type Iip 38
1254 CNG134 Congenitally Corrected Transposition of the Great Arteries 38
1255 c HMN027 Hemangioma, Capillary Infantile 38
1256 PRV003 Perivascular Epithelioid Cell Tumor 38
1257 c HYP548 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 37
1258 HYP110 Hyperproinsulinemia 37
1259 c ATM104 Autoimmune Vasculitis 37
1260 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 37
1261 P HPT020 Hepatic Vascular Disease 37
1262 MDD003 Middle Cerebral Artery Infarction 37
1263 c BNG021 Benign Essential Hypertension 37
1264 LVD003 Livedoid Vasculitis 37
1265 SGT001 Sagittal Sinus Thrombosis 36
1266 c BRG003 Brugada Syndrome 3 36
1267 PRT048 Partial Atrioventricular Canal 36
1268 NNB001 Nonbacterial Thrombotic Endocarditis 36
1269 c CRD104 Cardiomyopathy, Dilated, 1p 36
1270 PLM018 Pulmonary Sclerosing Hemangioma 36
1271 c ATM022 Autoimmune Myocarditis 35
1272 CRB031 Cerebral Arterial Disease 35
1273 MLG141 Malignant Atrophic Papulosis 35
1274 CMB008 Combined Oxidative Phosphorylation Deficiency 35
1275 P GLY112 Glycosylphosphatidylinositol Biosynthesis Defect 1 35
1276 HMN016 Hemangioendothelioma 35
1277 HMN004 Hemangioma of Liver 34
1278 c LMN001 Lmna-Related Dilated Cardiomyopathy 34
1279 c HRD007 Hereditary Lymphedema 34
1280 c PST018 Posterior Cerebral Artery Infarction 34
1281 CVR002 Cavernous Sinus Thrombosis 34
1282 c PLM127 Pulmonary Hypertension, Primary, 3 34
1283 c SCK017 Sick Sinus Syndrome 1 34
1284 SYD002 Sydenham Chorea 34
1285 c ART068 Aortic Aneurysm, Familial Thoracic 2 34
1286 c CRD081 Cardiomyopathy, Familial Hypertrophic, 12 34
1287 GRN006 Granulomatous Angiitis 34
1288 INT076 Intracranial Sinus Thrombosis 33
1289 CRN270 Coronary Artery Dissection, Spontaneous 33
1290 BSL004 Basilar Artery Occlusion 33
1291 c BRG008 Brugada Syndrome 6 32
1292 c ATP003 Atp6v0a2-Related Cutis Laxa 32
1293 HPT081 Hepatic Infarction 32
1294 RVR002 Reversible Cerebral Vasoconstriction Syndrome 32
1295 HYP193 Hypocomplementemic Urticarial Vasculitis 32
1296 c CNG403 Congenital Disorder of Glycosylation, Type Ix 32
1297 P PRV005 Perivascular Tumor 31
1298 RNL001 Renal Artery Obstruction 31
1299 c HRD206 Hereditary Lymphedema Ii 31
1300 RHM008 Rheumatic Myocarditis 31
1301 c CRD096 Cardiomyopathy, Dilated, 1ee 31
1302 SPN012 Spindle Cell Hemangioma 31
1303 PRN017 Perianal Hematoma 30
1304 c ATM013 Autoimmune Disease of Cardiovascular System 30
1305 OCC005 Occlusion Precerebral Artery 30
1306 LFF001 Loeffler Endocarditis 30
1307 P BRN140 Brain Small Vessel Disease 2 30
1308 c SCK014 Sick Sinus Syndrome 2 29
1309 SHR103 Short Stature, Developmental Delay, and Congenital Heart Defects 29
1310 BSL001 Basilar Artery Insufficiency 29
1311 c HYP523 Hypogonadotropic Hypogonadism 14 with or Without Anosmia 29
1312 c CRD107 Cardiomyopathy, Dilated, 1r 29
1313 RGH006 Right Aortic Arch 28
1314 c PLM128 Pulmonary Hypertension, Primary, 2 28
1315 c CRD159 Cardiomyopathy, Dilated, 1hh 28
1316 PRC010 Pericardial Mesothelioma 27
1317 c HYP518 Hypogonadotropic Hypogonadism 16 with or Without Anosmia 27
1318 CRT001 Carotid Body Cancer 27
1319 c ART105 Aortic Aneurysm, Familial Thoracic 7 27
1320 c CRD088 Cardiomyopathy, Familial Hypertrophic, 8 27
1321 CHR010 Chorioangioma 27
1322 c CRD089 Cardiomyopathy, Familial Hypertrophic, 14 27
1323 c HTR009 Heterotaxy, Visceral, 2, Autosomal 27
1324 WTB001 Wet Beriberi 27
1325 c ATR067 Atrioventricular Septal Defect 4 26
1326 ERY069 Erythrokeratoderma ''en Cocardes'' 26
1327 c ATR047 Atrioventricular Septal Defect 2 26
1328 ANM031 Anomalous Left Coronary Artery from the Pulmonary Artery 26
1329 c ART134 Aortic Aneurysm, Familial Thoracic 10 26
1330 c GLY103 Glycosylphosphatidylinositol Biosynthesis Defect 15 26
1331 LTR002 Lateral Sinus Thrombosis 26
1332 PRT114 Prothrombin Thrombophilia 26
1333 c HYP557 Hypogonadotropic Hypogonadism 19 with or Without Anosmia 26
1334 CRD006 Cardiovascular Syphilis 25
1335 c HYP443 Hypogonadotropic Hypogonadism 13 with or Without Anosmia 25
1336 c CRD111 Cardiomyopathy, Dilated, 1i 25
1337 CRT028 Cor Triatriatum 25
1338 ANG006 Angiokeratoma of Mibelli 25
1339 c HYP538 Hypogonadotropic Hypogonadism 17 with or Without Anosmia 25
1340 ART030 Aortic Arch Interruption 25
1341 c HYP444 Hypogonadotropic Hypogonadism 9 with or Without Anosmia 25
1342 HRT003 Heart Lymphoma 25
1343 c ACQ027 Acquired Cutis Laxa 25
1344 GLM005 Glomangiosarcoma 25
1345 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 25
1346 c CRD162 Cardiomyopathy, Dilated, 1ii 25
1347 c HTR018 Heterotaxy, Visceral, 7, Autosomal 25
1348 VRT002 Vertebral Artery Insufficiency 25
1349 c FBL003 Fbln5-Related Cutis Laxa 25
1350 c ATR074 Atrial Standstill 2 24
1351 c CRD149 Cardiomyopathy, Dilated, 1jj 24
1352 NTM001 Nutmeg Liver 24
1353 c CRD064 Cardiomyopathy, Dilated, 1ff 24
1354 c VNT024 Ventricular Septal Defect 3 24
1355 c BRG009 Brugada Syndrome 7 24
1356 FMR001 Femoral Vein Thrombophlebitis 24
1357 c LNG052 Long Qt Syndrome 8 24
1358 CMB082 Combined Oxidative Phosphorylation Deficiency 33 24
1359 c CRD060 Cardiomyopathy, Dilated, 1z 24
1360 c CNG511 Congenital Heart Defects, Multiple Types, 2 24
1361 c ART107 Aortic Aneurysm, Familial Thoracic 8 24
1362 c CRD092 Cardiomyopathy, Dilated, 1w 24
1363 c GLY106 Glycosylphosphatidylinositol Biosynthesis Defect 11 24
1364 ANG012 Angiodysplasia of Intestine 24
1365 IMM103 Immunodeficiency 37 24
1366 c HTR020 Heterotaxy, Visceral, 8, Autosomal 24
1367 RNL008 Renal Artery Atheroma 24
1368 c ATR092 Atrial Fibrillation, Familial, 15 24
1369 c CRD113 Cardiomyopathy, Dilated, 1v 23
1370 c VNT026 Ventricular Septal Defect 2 23
1371 DFF022 Diffuse Neonatal Hemangiomatosis 23
1372 CRD217 Cardiac Tuberculosis 23
1373 c LTB003 Ltbp4-Related Cutis Laxa 23
1374 c GLY108 Glycosylphosphatidylinositol Biosynthesis Defect 18 23
1375 EPC001 Epicardium Cancer 23
1376 c BRN141 Brain Small Vessel Disease 3 23
1377 c CRD115 Cardiomyopathy, Dilated, 1cc 23
1378 c LDD008 Liddle Syndrome 2 23
1379 c CRD153 Cardiomyopathy, Dilated, 2b 23
1380 c CRD108 Cardiomyopathy, Dilated, 1bb 23
1381 c ATS451 Autosomal Recessive Cutis Laxa Type 2 22
1382 c LNG114 Long Qt Syndrome 16 22
1383 c CRD242 Cardiomyopathy, Familial Hypertrophic 27 22
1384 RGH010 Right Ventricular Hypoplasia, Isolated 21
1385 c ART159 Aortic Valve Disease 3 21
1386 c ANT010 Anterior Compartment Syndrome 21
1387 P ART034 Aortopulmonary Window 21
1388 c ATR026 Atrial Fibrillation, Familial, 1 21
1389 c BNG033 Benign Perivascular Tumor 21
1390 c PTN013 Patent Ductus Arteriosus 2 21
1391 P FML305 Familial Abdominal Aortic Aneurysm 21
1392 ACT174 Acute Peripheral Arterial Occlusion 21
1393 c CRD173 Cardiomyopathy, Dilated, 1nn 21
1394 MTC215 Mitochondrial Complex Iv Deficiency, Nuclear Type 4 21
1395 c GLY104 Glycosylphosphatidylinositol Biosynthesis Defect 16 21
1396 CMP077 Composite Hemangioendothelioma 21
1397 c GLY107 Glycosylphosphatidylinositol Biosynthesis Defect 17 20
1398 CMB098 Combined Oxidative Phosphorylation Deficiency 42 20
1399 CRT061 Cor Triatriatum Dexter 20
1400 c ART133 Aortic Aneurysm, Familial Thoracic 11 20
1401 MNN006 Meninges Hemangiopericytoma 20
1402 SPN092 Spinal Shock 20
1403 QDR002 Quadricuspid Aortic Valve 19
1404 c LFT020 Left Ventricular Noncompaction 7 19
1405 c ARR051 Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 19
1406 c FML025 Familial Glomangioma 19
1407 SBR012 Subaortic Stenosis, Membranous 18
1408 c MTR083 Mitral Valve Prolapse 3 18
1409 DMN012 Dementia - Subcortical 17
1410 PLY088 Polyvalvular Heart Disease Syndrome 17
1411 DBL010 Double-Orifice Mitral Valve 17
1412 DYS135 Dysphagia Lusoria 17
1413 MLT037 Multifocal Lymphangioendotheliomatosis with Thrombocytopenia 17
1414 SBP005 Subpulmonary Stenosis 16
1415 PLM065 Pulmonary Supravalvular Stenosis 16
1416 c ANG028 Angioma Serpiginosum, Autosomal Dominant 15
1417 AZY001 Azygos Continuation of the Inferior Vena Cava 15
1418 CRD014 Cardiac Diverticulum 15
1419 BRN122 Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome 14
1420 c ANR028 Aneurysm, Intracranial Berry, 3 14
1421 ANR045 Aneurysm of Interventricular Septum 14
1422 c ATR027 Atrial Fibrillation, Familial, 5 14
1423 CRN308 Coronary Arterial Fistula 14
1424 c ART152 Aortic Aneurysm, Familial Abdominal, 3 14
1425 CMP098 Complex Vascular Malformation with Associated Anomalies 14
1426 c PLM169 Pulmonary Hypertension, Primary, Autosomal Recessive 13
1427 c ART108 Aortic Aneurysm, Familial Abdominal, 4 13
1428 c ART151 Aortic Aneurysm, Familial Abdominal, 2 13
1429 c CRD070 Cardiomyopathy, Dilated, 1k 13
1430 c CRD071 Cardiomyopathy, Dilated, 1q 13
1431 LFT022 Left Sided Atrial Isomerism 13
1432 ANM076 Anomalous Aortic Origin of the Right Coronary Artery 13
1433 MCR295 Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome 13
1434 SPR003 Superior Vena Cava Leiomyosarcoma 12
1435 ANM075 Anomalous Aortic Origin of Coronary Artery 12
1436 SBG002 Subglottic Angioma 12
1437 c ATR025 Atrial Fibrillation, Familial, 2 12
1438 ISL054 Isolated Congenitally Uncorrected Transposition of the Great Arteries 12
1439 ART129 Arterial Dissection with Lentiginosis 12
1440 c ATR028 Atrial Fibrillation, Familial, 8 12
1441 INF188 Inferior Vena Cava Interruption Without Azygos Continuation 12
1442 ANM077 Anomalous Aortic Origin of the Left Coronary Artery 12
1443 c BNG034 Benign Secondary Hypertension 12
1444 c CNG343 Congenital Coronary Artery Aneurysm 11
1445 c HYP447 Hypertension, Essential 1 11
1446 INV014 Inverse Klippel-Trenaunay Syndrome 11
1447 c CNG455 Congenital Aortopulmonary Window 11
1448 c HYP452 Hypertension, Essential 6 11
1449 c INT382 Intermediate Atrioventricular Septal Defect 11
1450 TNN014 Tunnel Subaortic Stenosis 11
1451 TRN010 Transient Retinal Arterial Occlusion 11
1452 RHM002 Rheumatic Pulmonary Valve Disease 11
1453 c HYP448 Hypertension, Essential 2 10
1454 INT396 Internal Carotid Absence 10
1455 WRT007 Warts-Immunodeficiency-Lymphedema-Anogenital Dysplasia Syndrome 10
1456 CHL034 Childhood Malignant Hemangiopericytoma 9
1457 AGN011 Agenesis of the Superior Vena Cava 9
1458 c CNG251 Congenital Pericardium Anomaly 9
1459 GLL002 Gallbladder Angiosarcoma 9
1460 ECT107 Ectasia of the Left Atrial Appendage 9
1461 ILC001 Iliac Vein Thrombophlebitis 8
1462 c CHR021 Chronic Rapidly Progressive Glomerulonephritis 8
1463 PRT027 Partial Arterial Retinal Occlusion 8
1464 CRN208 Coronary Sinus Atresia 8
1465 c RRP004 Rare Primary Hyperaldosteronism 7
1466 CRD004 Cardiac Granular Cell Neoplasm 7
1467 FML224 Familial Idiopathic Dilatation of the Right Atrium 7
1468 MLG058 Malignant Cardiac Germ Cell Tumor 7
1469 PRT007 Partial of Retinal Vein Occlusion 7
1470 c TTR026 Tetralogy of Fallot Syndrome, Autosomal Recessive 7
1471 c CL4005 Col4a1-Related Brain Small-Vessel Disease 7
1472 CNG259 Congenitally Uncorrected Transposition of the Great Arteries with Cardiac Malformation 6
1473 c MLG004 Malignant Hypertensive Renal Disease 6
1474 PZ1002 Piezo1-Related Generalized Lymphatic Dysplasia with Non-Immune Hydrops Fetalis 6
1475 P RRC010 Rare Capillary Malformation 6
1476 ABS017 Absence of Innominate Vein 6
1477 NNN031 Non-Inflammatory Vasculopathy 6
1478 CNG351 Congenital Partial Pulmonary Venous Return Anomaly 5
1479 EPH004 Ephb4-Related Lymphatic-Related Hydrops Fetalis 5
1480 PRS138 Persistent Left Superior Vena Cava Connecting to the Roof of Left-Sided Atrium 5
1481 RRC028 Rare Congenital Non-Syndromic Heart Malformation 5
1482 RGH008 Right Superior Vena Cava Connecting to Left-Sided Atrium 5
1483 CNG601 Congenital Tricuspid Malformation 5
1484 PRT109 Partially Involuting Congenital Hemangioma 5
1485 CNG537 Congenital Anomaly of the Tricuspid Valve Chordae 5
1486 SBR010 Subaortic Course of Innominate Vein 4
1487 PLM178 Pulmonary Valve Agenesis-Intact Ventricular Septum-Persistent Ductus Arteriosus Syndrome 4
1488 c CNG593 Congenital Mitral Valve Insufficiency and/or Stenosis 4
1489 SMP008 Simple Vascular Malformation 4
1490 CNG569 Congenital Disorder of Glycosylation with Cardiac Malformation As a Major Feature 4
1491 CNG606 Congenital Aortic Valve Dysplasia 4
1492 c RRG026 Rare Genetic Vascular Disease 4
1493 ENC035 Encircling Double Aortic Arch 4
1494 TRF003 Traf7-Associated Heart Defect-Digital Anomalies-Facial Dysmorphism-Motor and Speech Delay Syndrome 4
1495 c RRT007 Rare Thrombotic Disorder Due to a Platelet Anomaly 3
1496 c RRL006 Rare Lymphatic System Anomaly 3
1497 c CNG565 Congenital Systemic Veins Anomaly 3
1498 CNG349 Congenital Patent Ductus Arteriosus Aneurysm 3
1499 CNG361 Congenital Supravalvular Mitral Ring 3
1500 RRS007 Rare Syndrome with Cardiac Malformations 3
1501 P GNT128 Genetic Vascular Anomaly 3
1502 VSC061 Vascular Anomaly or Angioma 3
1503 P MTR029 Mitral Valve Prolapse, Familial, Autosomal Dominant 3
1504 ANM078 Anomaly of the Coronary Ostia 3
1505 P GLC113 Galactosemia I 65
1506 LGG001 Legg-Calve-Perthes Disease 59
1507 c GLC111 Galactosemia Ii 54
1508 c GLC112 Galactosemia Iii 51
1509 c GLC115 Galactosemia Iv 23
1510 P FML364 Familial Thoracic Aortic Aneurysm and Aortic Dissection 70
1511 c CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 70
1512 P TTR001 Tetralogy of Fallot 69
1513 P HYP061 Hypertrophic Cardiomyopathy 68
1514 P CRD119 Cardiac Arrest 68
1515 P AGM001 Agammaglobulinemia 67
1516 c FML001 Familial Atrial Fibrillation 65
1517 c MCR115 Microvascular Complications of Diabetes 5 65
1518 KWS002 Kawasaki Disease 65
1519 c CRB172 Cerebral Amyloid Angiopathy, Cst3-Related 64
1520 P CTC001 Catecholaminergic Polymorphic Ventricular Tachycardia 64
1521 WLF001 Wolff-Parkinson-White Syndrome 63
1522 P VSC007 Vascular Disease 62
1523 AND019 Andersen Cardiodysrhythmic Periodic Paralysis 61
1524 ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 61
1525 VRC005 Varicose Veins 59
1526 c PRG126 Progressive Familial Heart Block 59
1527 P MYC008 Myocarditis 59
1528 c LYS019 Loeys-Dietz Syndrome 1 57
1529 APP015 Apparent Mineralocorticoid Excess 57
1530 SPR004 Supravalvular Aortic Stenosis 57
1531 P CNT004 Centronuclear Myopathy 56
1532 P JRV004 Jervell and Lange-Nielsen Syndrome 1 56
1533 c CRD147 Cardiomyopathy, Familial Hypertrophic, 20 55
1534 c CRD093 Cardiomyopathy, Dilated, 1a 55
1535 HPT046 Hepatic Veno-Occlusive Disease 54
1536 P RTN022 Retinal Vein Occlusion 54
1537 c CRD099 Cardiomyopathy, Dilated, 1e 53
1538 c MYP123 Myopathy, Centronuclear, 1 52
1539 CHR101 Char Syndrome 52
1540 P ART018 Aortic Valve Insufficiency 52
1541 P ECL001 Eclampsia 52
1542 CTS003 Coats Disease 51
1543 c MYP131 Myopathy, Centronuclear, 2 51
1544 c CRD085 Cardiomyopathy, Familial Hypertrophic, 4 51
1545 c CRD236 Cardiomyopathy, Familial Hypertrophic, 25 50
1546 c CNG191 Congenital Disorder of Glycosylation, Type Iia 50
1547 P MYF003 Myofibrillar Myopathy 50
1548 INT078 Intracranial Thrombosis 50
1549 KPS002 Kaposiform Hemangioendothelioma 50
1550 c PSD112 Pseudohypoaldosteronism, Type I, Autosomal Dominant 50
1551 NPH010 Nephrosclerosis 50
1552 P HMR005 Hemorrhoid 49
1553 SPT005 Spotted Fever 49
1554 MLT145 Multiple Enchondromatosis, Maffucci Type 49
1555 CLN045 Colonic Benign Neoplasm 48
1556 SND002 Sneddon Syndrome 48
1557 c ARR023 Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 47
1558 c PRM038 Primary Agammaglobulinemia 47
1559 c ARR050 Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 47
1560 P RTN014 Retinal Artery Occlusion 46
1561 c CTS041 Cutis Laxa, Autosomal Dominant 3 46
1562 PRP007 Priapism 46
1563 c VNW005 Von Willebrand Disease, Type 1 46
1564 c CNG204 Congenital Disorder of Glycosylation, Type Iih 45
1565 c ARR018 Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 45
1566 c CRB191 Cerebral Cavernous Malformations 2 45
1567 RTN021 Retinal Vascular Occlusion 45
1568 c CNG190 Congenital Disorder of Glycosylation, Type Iib 45
1569 c STN011 Sting-Associated Vasculopathy with Onset in Infancy 44
1570 c ARR028 Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 44
1571 c ARR045 Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 44
1572 c LFT021 Left Ventricular Noncompaction 1 44
1573 RTN179 Retinal Arteries, Tortuosity of 42
1574 c CRD069 Cardiomyopathy, Dilated, 1h 42
1575 P OVR082 Overgrowth Syndrome 41
1576 P CRN074 Coronary Artery Aneurysm 41
1577 c LNG045 Long Qt Syndrome 10 41
1578 c CRB094 Cerebral Cavernous Malformations 3 41
1579 c MCR133 Microvascular Complications of Diabetes 4 41
1580 c MCR130 Microvascular Complications of Diabetes 6 41
1581 P INT260 Intracranial Berry Aneurysm 40
1582 c CRD079 Cardiomyopathy, Familial Hypertrophic, 9 40
1583 NNN007 Non-Involuting Congenital Hemangioma 40
1584 CRT004 Carotid Artery Thrombosis 39
1585 c AGM013 Agammaglobulinemia 1, Autosomal Recessive 38
1586 P CRB188 Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy 38
1587 c CRD163 Cardiofaciocutaneous Syndrome 2 38
1588 LYM014 Lymphangitis 38
1589 GLM012 Glomuvenous Malformations 38
1590 IMM038 Immunodeficiency, Common Variable, 1 38
1591 c AGM023 Agammaglobulinemia 4, Autosomal Recessive 37
1592 c CRD222 Cardiomyopathy, Familial Hypertrophic, 26 37
1593 PHC018 Phace Association 37
1594 c CRD082 Cardiomyopathy, Dilated, 1gg 37
1595 PLM151 Pulmonary Arteriovenous Fistulas 37
1596 KNZ001 Kanzaki Disease 37
1597 c CRD232 Cardiomyopathy, Familial Hypertrophic, 6 37
1598 c CRD087 Cardiomyopathy, Familial Hypertrophic, 10 36
1599 HYP249 Hyperthyroidism, Nonautoimmune 36
1600 c ANT084 Anterior Segment Dysgenesis 3 36
1601 c VNT029 Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 35
1602 PLM180 Pulmonary Artery Disease 35
1603 c CRB170 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 35
1604 CTS011 Cutis Marmorata Telangiectatica Congenita 34
1605 c CRD167 Cardiofaciocutaneous Syndrome 4 34
1606 c MYP098 Myopathy, Centronuclear, 4 33
1607 c PHL010 Peho-Like Syndrome 33
1608 c EMR019 Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant 33
1609 c PK3005 Pik3ca-Related Overgrowth Syndrome 33
1610 c MYP148 Myopathy, Centronuclear, 5 33
1611 c CRD058 Cardiomyopathy, Familial Hypertrophic, 3 33
1612 c ARR049 Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 33
1613 c CRD101 Cardiomyopathy, Dilated, 1x 32
1614 PLS002 Peliosis Hepatis 32
1615 c CRD062 Cardiomyopathy, Familial Hypertrophic, 7 32
1616 ATR088 Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects 30
1617 PLM004 Pulmonary Artery Leiomyosarcoma 30
1618 c ATM102 Autoimmune Cardiomyopathy 30
1619 c CRD237 Cardiomyopathy, Dilated, 1aa, with or Without Left Ventricular Noncompaction 29
1620 c ART118 Aortic Aneurysm, Familial Thoracic 9 29
1621 P PLM069 Pulmonary Venous Return Anomaly 29
1622 c CNG520 Congenital Heart Defects, Multiple Types, 6 29
1623 c MTR080 Mitral Valve Prolapse 1 29
1624 c CRD063 Cardiomyopathy, Dilated, 2a 28
1625 P ANG013 Angioma Serpiginosum 28
1626 c ATR061 Atrial Fibrillation, Familial, 10 28
1627 c THR086 Thrombocythemia 3 28
1628 CRD007 Cardiovascular Organ Benign Neoplasm 28
1629 GST005 Gastric Hemangioma 28
1630 c LFT017 Left Ventricular Noncompaction 8 27
1631 c CRD056 Cardiomyopathy, Familial Hypertrophic, 11 27
1632 c HYP532 Hypogonadotropic Hypogonadism 18 with or Without Anosmia 27
1633 c AGM022 Agammaglobulinemia 3, Autosomal Recessive 27
1634 c AGM021 Agammaglobulinemia 2, Autosomal Recessive 27
1635 ICH011 Ichthyosis Follicularis Atrichia Photophobia Syndrome 27
1636 HRL006 Harel-Yoon Syndrome 27
1637 c AGM015 Agammaglobulinemia 7, Autosomal Recessive 26
1638 MGL033 Megalocornea-Mental Retardation Syndrome 26
1639 SGM002 Sigmoid Neoplasm 26
1640 c AGM020 Agammaglobulinemia 6, Autosomal Recessive 26
1641 UTR029 Uterus Perivascular Epithelioid Cell Tumor 26
1642 c LFT018 Left Ventricular Noncompaction 10 25
1643 c CRD150 Cardiomyopathy, Familial Hypertrophic, 18 25
1644 c CRD238 Cardiomyopathy, Familial Hypertrophic, 17 25
1645 c ANT067 Anterior Segment Dysgenesis 8 25
1646 c CRD083 Cardiomyopathy, Familial Hypertrophic, 15 25
1647 c PSD094 Pseudohypoaldosteronism, Type Iib 25
1648 c PK3004 Pik3ca-Related Overgrowth Spectrum 24
1649 c HYP820 Hypogonadotropic Hypogonadism 22 with or Without Anosmia 24
1650 c MTR077 Mitral Valve Prolapse 2 24
1651 CMB100 Combined Oxidative Phosphorylation Deficiency 44 24
1652 PRP101 Peripheral Pulmonary Stenosis 24
1653 PLM003 Pulmonary Vein Leiomyosarcoma 24
1654 c ATR071 Atrioventricular Septal Defect 5 24
1655 c HTR023 Heterotaxy, Visceral, 6, Autosomal 24
1656 PRP011 Puerperal Pulmonary Embolism 23
1657 SPL001 Spleen Angiosarcoma 23
1658 c CNG615 Congenital Disorder of Glycosylation, Type Iir 23
1659 MSC089 Mosaic Monosomy X 23
1660 MLL022 Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly 23
1661 c ATR035 Atrial Fibrillation, Familial, 6 22
1662 c ANT087 Anterior Segment Dysgenesis 6 22
1663 HMN012 Hemangioma of Lung 22
1664 c ATR064 Atrioventricular Septal Defect 3 22
1665 HGH021 Hughes-Stovin Syndrome 22
1666 c LYM148 Lymphatic Malformation 4 22
1667 c ABD015 Abdominal Obesity-Metabolic Syndrome 4 22
1668 c CRD148 Cardiomyopathy, Familial Hypertrophic, 16 22
1669 c DLT017 Dilated Cardiomyopathy 1t 21
1670 c ATR085 Atrial Fibrillation, Familial, 18 21
1671 c CNG616 Congenital Heart Defects, Multiple Types, 7 21
1672 c AGM017 Agammaglobulinemia 8, Autosomal Dominant 21
1673 c ATR070 Atrial Fibrillation, Familial, 9 21
1674 PLM116 Pulmonary Artery Hypoplasia 21
1675 c ANR027 Aneurysm, Intracranial Berry, 1 21
1676 HMH003 Hemihyperplasia-Multiple Lipomatosis Syndrome 21
1677 c AGM024 Agammaglobulinemia 5, Autosomal Dominant 20
1678 IMM227 Immunodeficiency 70 20
1679 MCR304 Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 19
1680 CNG532 Congenital Vertebral-Cardiac-Renal Anomalies Syndrome 19
1681 EXT062 Extracranial Carotid Artery Aneurysm 19
1682 CRN311 Coronary Ostial Stenosis or Atresia 18
1683 PLM067 Pulmonary Valves Agenesis 18
1684 c CRD152 Cardiomyopathy, Familial Hypertrophic, 21 18
1685 PDT041 Pediatric Arterial Ischemic Stroke 17
1686 APL026 Aplasia Cutis Congenita with Intestinal Lymphangiectasia 16
1687 DRG017 Drug-Induced Vasculitis 16
1688 c LYM146 Lymphatic Malformation 2 15
1689 c SCN082 Secondary Vasculitis 14
1690 DRL001 Dural Sinus Malformation 14
1691 PRS111 Persistent Fifth Aortic Arch 14
1692 RRC029 Rare Cause of Hypertension 13
1693 c RRV009 Rare Vascular Disease 13
1694 CNG344 Congenital Anomaly of the Inferior Vena Cava 12
1695 UNC016 Unclassified Vasculitis 11
1696 c ANR025 Aneurysm, Intracranial Berry, 10 11
1697 c EZH001 Ezh2-Related Overgrowth 11
1698 CNG352 Congenital Stenosis of the Inferior Vena Cava 10
1699 c CNG249 Congenital Pulmonary Venous Return Anomaly 10
1700 c EDR001 Eed-Related Overgrowth 9
1701 c HYP453 Hypertension, Essential 7 9
1702 c CRD027 Cardiomyopathy Due to Anthracyclines 9
1703 ANG057 Angioosteohypotrophic Syndrome 9
1704 CNG359 Congenitally Uncorrected Transposition of the Great Arteries with Coarctation 9
1705 DBL018 Double Outlet Right Ventricle with Subaortic or Doubly Committed Ventricular Septal Defect with Pulmonary Stenosis 8
1706 FML336 Familial Patent Arterial Duct 8
1707 RRV006 Rare Venous Malformation 8
1708 SKN008 Skin Glomus Tumor 8
1709 PRM160 Premature Closure of the Arterial Duct 6
1710 DBL016 Double Outlet Right Ventricle with Atrioventricular Septal Defect, Pulmonary Stenosis, Heterotaxy 6
1711 CRN073 Coronary Arteries Congenital Malformation 6
1712 c CRB127 Cerebrofacial Arteriovenous Metameric Syndrome Type 3 5
1713 CNG345 Congenital Anomaly of Superior Vena Cava 5
1714 PLM157 Pulmonary Valve Agenesis-Tetralogy of Fallot-Absence of Ductus Arteriosus Syndrome 5
1715 LTH051 Lethal Brain and Heart Developmental Defects 5
1716 c HYP486 Hypertrophic Cardiomyopathy Due to Intensive Athletic Training 5
1717 RGH007 Right Inferior Vena Cava Connecting to Left-Sided Atrium 5
1718 CNG340 Congenital Anomaly of Hepatic Vein 5
1719 c RRD022 Rare Disease with Thoracic Aortic Aneurysm and Aortic Dissection 5
1720 CNG602 Congenital Anomaly of the Great Arteries 4
1721 P PRD043 Predominantly Small-Vessel Vasculitis 4
1722 RRC020 Rare Congenital Anomaly of Ventricular Septum 4
1723 RRT022 Rare Atrial Defect and Interatrial Communication 4
1724 HMN006 Hemangioma of Peripheral Nerve 4
1725 RRC016 Rare Combined Vascular Malformation 4
1726 PLM119 Pulmonary Artery Coming from Patent Ductus Arteriosus 4
1727 PRD044 Predominantly Medium-Vessel Vasculitis 4
1728 CNG574 Congenital Anomaly of the Great Veins 4
1729 ART160 Arterial Duct Anomaly 4
1730 c RRT006 Rare Thrombotic Disorder Due to a Constitutional Platelet Anomaly 3
1731 c RRT010 Rare Thrombotic Disorder Due to a Coagulation Factors Defect 3
1732 RRV008 Rare Vascular Malformation of Major Vessels 3
1733 CNG599 Congenital Pulmonary Veins Anomaly 3
1734 RRG077 Rare Genetic Cause of Hypertension 3
1735 c PRD045 Predominantly Large-Vessel Vasculitis 3
1736 INF180 Infantile Hemangioma of Rare Localization 3
1737 VSC060 Vascular Tumor with Associated Anomalies 3
1738 RRC017 Rare Capillary Malformation with Associated Anomalies 3
1739 UNV003 Univentricular Cardiopathy 3
1740 TRN077 Transposition of the Great Arteries and Conotruncal Cardiac Anomaly 3
1741 UTR004 Uterus Intravascular Leiomyomatosis 6
1742 KPS004 Kaposi Sarcoma 76
1743 c ATR087 Atrial Standstill 1 74
1744 c THR092 Thrombophilia Due to Thrombin Defect 74
1745 P ALG028 Alagille Syndrome 1 73
1746 c HMC039 Hemochromatosis, Type 1 73
1747 c ART115 Aortic Valve Disease 1 72
1748 DWN001 Down Syndrome 70
1749 P CWD010 Cowden Syndrome 70
1750 WRN001 Werner Syndrome 69
1751 c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 67
1752 P PSD087 Pseudoxanthoma Elasticum 66
1753 HLT001 Holt-Oram Syndrome 66
1754 CNT061 Conotruncal Heart Malformations 66
1755 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 66
1756 P ATR011 Atrial Fibrillation 66
1757 c ART101 Aortic Valve Disease 2 65
1758 VNT035 Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy 65
1759 NNN026 Noonan Syndrome with Multiple Lentigines 64
1760 ART001 Arterial Tortuosity Syndrome 64
1761 ANG020 Angiosarcoma 63
1762 ACT250 Acute Megakaryocytic Leukemia 63
1763 TRN015 Transient Cerebral Ischemia 62
1764 P ORT004 Orthostatic Intolerance 61
1765 P PGT001 Paget's Disease of Bone 60
1766 c ART138 Aortic Aneurysm, Familial Abdominal, 1 60
1767 c THR082 Thrombophilia Due to Activated Protein C Resistance 58
1768 c HMC009 Hemochromatosis Type 2 58
1769 PLM033 Pulmonary Embolism 58
1770 c PRM012 Primary Polycythemia 58
1771 TTL012 Total Anomalous Pulmonary Venous Return 1 58
1772 CYS008 Cystic Echinococcosis 57
1773 P PLY018 Polycythemia 56
1774 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 56
1775 PRP009 Peripartum Cardiomyopathy 54
1776 LYM022 Lymphangioma 54
1777 P CPL014 Capillary Malformation-Arteriovenous Malformation 1 53
1778 PLS016 Plasma Cell Leukemia 53
1779 P RRH023 Rare Hereditary Hemochromatosis 52
1780 LYM029 Lymphedema-Distichiasis Syndrome 52
1781 P THR015 Thrombophilia 51
1782 MCR088 Microscopic Polyangiitis 51
1783 P HYP083 Hypopituitarism 51
1784 CLC001 Calciphylaxis 50
1785 c LYS020 Loeys-Dietz Syndrome 5 50
1786 c HMC010 Hemochromatosis, Type 3 49
1787 VSC058 Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome 49
1788 c CNG203 Congenital Disorder of Glycosylation, Type Iii 49
1789 c PSD092 Pseudohypoaldosteronism, Type Iie 48
1790 c LYM145 Lymphatic Malformation 5 48
1791 P ARR027 Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 48
1792 c CRD233 Cardiomyopathy, Dilated, 1b 47
1793 c ANT077 Anterior Segment Dysgenesis 1 47
1794 c LYM144 Lymphatic Malformation 1 47
1795 c HYP543 Hypoplastic Left Heart Syndrome 1 46
1796 PRS030 Persistent Fetal Circulation Syndrome 46
1797 TXC011 Toxocariasis 46
1798 c MLG069 Malignant Hypertension 46
1799 c PGT008 Paget Disease of Bone 5, Juvenile-Onset 46
1800 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 46
1801 PST048 Postural Orthostatic Tachycardia Syndrome 46
1802 c VNT010 Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 46
1803 c ARR046 Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 45
1804 CYS002 Cystic Lymphangioma 45
1805 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 45
1806 c ACQ010 Acquired Polycythemia 45
1807 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 44
1808 P PLM025 Pulmonary Venoocclusive Disease 44
1809 c ARR024 Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 44
1810 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 43
1811 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 43
1812 P EPT020 Epithelioid Hemangioendothelioma 43
1813 c LYM150 Lymphatic Malformation 7 43
1814 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 43
1815 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 42
1816 c AVS006 Avascular Necrosis of Femoral Head, Primary, 1 42
1817 c HMC021 Hemochromatosis, Type 2a 42
1818 c CRD176 Cardiomyopathy, Familial Restrictive, 1 42
1819 PGM007 Pigmented Paravenous Chorioretinal Atrophy 42
1820 c CRD090 Cardiomyopathy, Dilated, 1l 41
1821 c HMC034 Hemochromatosis, Type 5 41
1822 c CRB051 Cerebral Cavernous Malformation, Familial 41
1823 LYM094 Lymphedema, Primary, with Myelodysplasia 40
1824 c CNG196 Congenital Disorder of Glycosylation, Type Ic 40
1825 BLR027 Blue Rubber Bleb Nevus 39
1826 c PGT007 Paget Disease of Bone 3 39
1827 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 39
1828 P FML156 Familial Hyperaldosteronism 39
1829 ECT108 Ectodermal Dysplasia and Immunodeficiency 1 38
1830 c EXD012 Exudative Vitreoretinopathy 7 37
1831 c CRD114 Cardiomyopathy, Dilated, 1m 37
1832 CPL002 Capillary Lymphangioma 37
1833 c HMC019 Hemochromatosis, Type 2b 36
1834 ERY017 Erythema Elevatum Diutinum 36
1835 c HYP549 Hypogonadotropic Hypogonadism 5 with or Without Anosmia 35
1836 c CNG386 Congenital Disorder of Glycosylation, Type Iu 35
1837 c HYP438 Hyperaldosteronism, Familial, Type Iii 35
1838 c CRD098 Cardiomyopathy, Familial Restrictive, 3 35
1839 c PGT009 Paget Disease of Bone 2, Early-Onset 34
1840 c ARR048 Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 34
1841 P FML187 Familial Hypertension 34
1842 c HYP547 Hypogonadotropic Hypogonadism 12 with or Without Anosmia 33
1843 c MLG080 Malignant Secondary Hypertension 32
1844 c ARR047 Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 32
1845 CYS041 Cystic Angiomatosis of Bone, Diffuse 32
1846 c PSD090 Pseudohypoaldosteronism, Type Iia 31
1847 P ATR081 Atrial Standstill 31
1848 P RRL003 Rare Lymphatic Malformation 31
1849 c CRD061 Cardiomyopathy, Familial Hypertrophic, 13 31
1850 c LYM149 Lymphatic Malformation 6 31
1851 c HYP708 Hyperaldosteronism, Familial, Type Iv 30
1852 c HYP600 Hyperaldosteronism, Familial, Type Ii 30
1853 c CRD155 Cardiomyopathy, Dilated, 1kk 30
1854 MNT266 Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects 30
1855 c ATR038 Atrial Fibrillation, Familial, 3 29
1856 c CNG608 Congenital Hypopituitarism 29
1857 c ATS209 Autosomal Dominant Secondary Polycythemia 28
1858 c PLM121 Pulmonary Hypertension, Primary, 4 28
1859 RTN145 Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis 27
1860 CTN019 Cutaneous Polyarteritis Nodosa 27
1861 c HYP514 Hypogonadotropic Hypogonadism 8 with or Without Anosmia 27
1862 c MLG145 Malignant Epithelioid Hemangioendothelioma 26
1863 CLN010 Colonic Lymphangioma 26
1864 IMM225 Immunodeficiency 71 with Inflammatory Disease and Congenital Thrombocytopenia 26
1865 P FML048 Familial Avascular Necrosis of the Femoral Head 25
1866 LMB076 Lumbar Syndrome 25
1867 c PGT011 Paget Disease of Bone 6 25
1868 c MYM003 Moyamoya Disease 5 25
1869 IMM198 Immunodeficiency 61 24
1870 c ATR037 Atrial Fibrillation, Familial, 7 23
1871 c CRD112 Cardiomyopathy, Dilated, 1u 23
1872 c MLG039 Malignant Essential Hypertension 23
1873 c LYM147 Lymphatic Malformation 3 22
1874 c ATR059 Atrial Fibrillation, Familial, 11 22
1875 c PTN012 Patent Ductus Arteriosus 3 21
1876 c ATR068 Atrial Fibrillation, Familial, 14 21
1877 c TFR001 Tfr2-Related Hereditary Hemochromatosis 21
1878 c ATR039 Atrial Fibrillation, Familial, 4 21
1879 ANM074 Anomalous Origin of Coronary Artery from the Pulmonary Artery 20
1880 LYM123 Lymphedema-Hypoparathyroidism Syndrome 20
1881 c ANT041 Antiphospholipid Syndrome, Familial 20
1882 c ATR072 Atrial Fibrillation, Familial, 13 20
1883 c CRD057 Cardiomyopathy, Familial Restrictive, 2 19
1884 c ATR069 Atrial Fibrillation, Familial, 12 19
1885 HDZ001 Hadziselimovic Syndrome 19
1886 FXL001 Foix-Alajouanine Syndrome 18
1887 ABS016 Absence of the Pulmonary Artery 18
1888 c AVS005 Avascular Necrosis of Femoral Head, Primary, 2 18
1889 RRV005 Rare Vascular Tumor 17
1890 c PGT006 Paget Disease of Bone 4 16
1891 ABN012 Abnormal Origin of Right or Left Pulmonary Artery from the Aorta 16
1892 PTN011 Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 16
1893 P RRC004 Rare Cardiomyopathy 16
1894 c THR119 Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator 16
1895 CRD215 Cardioskeletal Syndrome, Kuwaiti Type 15
1896 LYM037 Lymphedema and Cerebral Arteriovenous Anomaly 14
1897 IDP017 Idiopathic Dilatation of the Pulmonary Artery 13
1898 IMM206 Immune Complex Mediated Vasculitis 13
1899 OMP011 Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects 12
1900 c LYM158 Lymphatic Malformation 9 11
1901 c HYP449 Hypertension, Essential 3 11
1902 c SCN055 Secondary Polyarteritis Nodosa 10
1903 CNG392 Congenital Pulmonary Veins Atresia or Stenosis 10
1904 CNG337 Congenital Renal Artery Stenosis 9
1905 c DXT005 Dextro-Looped Transposition of the Great Arteries 3 8
1906 c CNG266 Congenital Secondary Polycythemia 8
1907 c THR126 Thrombophilia Due to Decreased Release of Plat 8
1908 c RRR004 Rare Arteriovenous Malformation 8
1909 SNG013 Single-Organ Polyarteritis Nodosa 7
1910 c ACQ028 Acquired Secondary Polycythemia 7
1911 c RRF013 Rare Familial Disorder with Hypertrophic Cardiomyopathy 7
1912 c ATS273 Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy 7
1913 c RRH022 Rare Hereditary Thrombophilia 7
1914 P BNG037 Benign Angiitis of the Central Nervous System 6
1915 P ATS271 Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy 6
1916 PST098 Postinfectious Vasculitis 6
1917 c PLY005 Polycythemia Due to Hypoxia 6
1918 ABN008 Abnormal Origin of the Pulmonary Artery 4
1919 c OCL037 Oculodentodigital Dysplasia Dominant 4
1920 c RRT005 Rare Thrombotic Disorder Due to an Acquired Platelet Anomaly 3
1921 c RRT008 Rare Thrombotic Disorder Due to an Acquired Coagulation Factors Defect 3
1922 c RRT009 Rare Thrombotic Disorder Due to a Constitutional Coagulation Factors Defect 3
1923 DSR088 Disorder with Multisystemic Involvement and Primary Lymphedema 3
1924 PLM194 Pulmonary Artery or Pulmonary Branch Anomaly 3
1925 c TBR026 Tuberous Sclerosis 2 71
1926 P PLM037 Pulmonary Hypertension 69
1927 P ESS003 Essential Thrombocythemia 68
1928 P LYS001 Loeys-Dietz Syndrome 65
1929 DGR001 Digeorge Syndrome 62
1930 ELL001 Ellis-Van Creveld Syndrome 61
1931 PHL006 Phelan-Mcdermid Syndrome 61
1932 P NRF002 Neurofibromatosis 60
1933 CYS005 Cysticercosis 60
1934 ART141 Arteriovenous Malformations of the Brain 58
1935 P DXT004 Dextro-Looped Transposition of the Great Arteries 58
1936 P LDD007 Liddle Syndrome 1 57
1937 P ACT092 Acth-Independent Macronodular Adrenal Hyperplasia 56
1938 HNC001 Henoch-Schoenlein Purpura 56
1939 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 56
1940 c CRB193 Cerebral Amyloid Angiopathy, App-Related 55
1941 c HRD202 Hereditary Lymphedema I 54
1942 TRC062 Tricuspid Atresia 54
1943 HYP074 Hypersensitivity Vasculitis 53
1944 P NNN037 Noonan Syndrome-Like Disorder with Loose Anagen Hair 51
1945 c HYP843 Hypoalphalipoproteinemia, Primary, 2 51
1946 OLV001 Olivopontocerebellar Atrophy 50
1947 c THR090 Thrombocythemia 1 50
1948 PRL019 Prolidase Deficiency 50
1949 VNS013 Venous Malformations, Multiple Cutaneous and Mucosal 46
1950 MYP056 Myopathy, X-Linked, with Postural Muscle Atrophy 45
1951 IMM064 Immunodeficiency, Common Variable, 10 43
1952 c CRB176 Cerebral Amyloid Angiopathy, Itm2b-Related, 1 43
1953 c PLM170 Pulmonary Venoocclusive Disease 1, Autosomal Dominant 43
1954 LVR002 Liver Angiosarcoma 42
1955 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 42
1956 PRK003 Parkes Weber Syndrome 41
1957 c CRD102 Cardiomyopathy, Dilated, 1j 41
1958 c CRB174 Cerebral Amyloid Angiopathy, Itm2b-Related, 2 40
1959 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 39
1960 CRD017 Cardiac Valvular Dysplasia, X-Linked 37
1961 c CRD164 Cardiofaciocutaneous Syndrome 3 36
1962 HYP652 Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome 36
1963 JJN004 Jejunal Atresia 36
1964 LTR003 Lateral Medullary Syndrome 35
1965 c ACT202 Acth-Independent Macronodular Adrenal Hyperplasia 2 34
1966 MCR183 Microcephaly-Capillary Malformation Syndrome 34
1967 TKN001 Takenouchi-Kosaki Syndrome 33
1968 c PRM039 Primary Angiitis of the Central Nervous System 32
1969 SSC001 Susac Syndrome 32
1970 c JRV002 Jervell and Lange-Nielsen Syndrome 2 31
1971 VSC050 Vascular Malformation, Primary Intraosseous 31
1972 c HRD100 Hereditary Lymphedema Ic 30
1973 c CPL015 Capillary Malformation-Arteriovenous Malformation 2 30
1974 P HRD084 Hereditary Cerebral Amyloid Angiopathy 29
1975 CPL012 Capillary Malformation of the Lower Lip, Lymphatic Malformation of Face and Neck, Asymmetry of Face and Limbs, and Partial/generalized Overgrowth 29
1976 CLN014 Colon Neuroendocrine Neoplasm 27
1977 c HYP531 Hypogonadotropic Hypogonadism 4 with or Without Anosmia 26
1978 c HYP817 Hypogonadotropic Hypogonadism 21 with or Without Anosmia 26
1979 c HYP521 Hypogonadotropic Hypogonadism 10 with or Without Anosmia 26
1980 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 25
1981 KPS005 Kaposiform Lymphangiomatosis 24
1982 c THR023 Thrombophilia Due to Thrombomodulin Defect 24
1983 c THR087 Thrombocythemia 2 22
1984 c HYP517 Hypoplastic Left Heart Syndrome 2 22
1985 c HRD204 Hereditary Lymphedema Ia 18
1986 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 18
1987 c ACT247 Acth-Independent Macronodular Adrenal Hyperplasia 1 18
1988 c MXD051 Mixed Cryoglobulinemia Type Ii 16
1989 c MXD037 Mixed Cryoglobulinemia Type Iii 12
1990 PLM023 Pulmonary Artery Choriocarcinoma 8
1991 c HRD205 Hereditary Lymphedema Ib 6
1992 c RRP017 Rare Pulmonary Hypertension 5
1993 c MYC054 Mycobacterium Tuberculosis 2 13
1994