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