|
1
|
(HPO:0001191)
|
Abnormality of the carpal bones |
|
|
24826304
|
IBIS
|
6 / 7739
|
|
2
|
(HPO:0003019)
|
Abnormality of the wrist |
Very frequent [Orphanet]
|
|
24826304
|
IBIS
|
52 / 7739
|
|
3
|
(HPO:0000912)
|
Sprengel anomaly |
Occasional [Orphanet]
|
|
1870097
|
IBIS
|
51 / 7739
|
|
4
|
(HPO:0000774)
|
Narrow chest |
Occasional [Orphanet]
|
|
22190901
|
IBIS
|
167 / 7739
|
|
5
|
(HPO:0010772)
|
Anomalous pulmonary venous return |
Occasional [Orphanet]
|
|
24879328
|
IBIS
|
11 / 7739
|
|
6
|
(HPO:0001199)
|
Triphalangeal thumb |
Frequent [Orphanet]
|
|
26243320
|
IBIS
|
56 / 7739
|
|
7
|
(HPO:0002974)
|
Radioulnar synostosis |
Occasional [Orphanet]
|
|
21637475
|
IBIS
|
52 / 7739
|
|
8
|
(HPO:0000767)
|
Pectus excavatum |
Occasional [Orphanet]
|
|
24879328
|
IBIS
|
244 / 7739
|
|
9
|
(HPO:0000772)
|
Abnormality of the ribs |
Occasional [Orphanet]
|
|
21637475
|
IBIS
|
146 / 7739
|
|
10
|
(HPO:0001631)
|
Atria septal defect |
Frequent [Orphanet]
41.4634 % [HPO]
|
|
25344219
|
IBIS
|
274 / 7739
|
|
11
|
(HPO:0001671)
|
Abnormality of the cardiac septa |
|
|
25344219
|
IBIS
|
55 / 7739
|
|
12
|
(HPO:0001629)
|
Ventricular septal defect |
Frequent [Orphanet]
14.6341 % [HPO]
|
|
25344219
|
IBIS
|
316 / 7739
|
|
13
|
(HPO:0001961)
|
Hypoplastic heart |
|
|
2766565
|
IBIS
|
9 / 7739
|
|
14
|
(HPO:0004383)
|
Hypoplastic left heart |
Occasional [Orphanet]
|
|
2766565
|
IBIS
|
29 / 7739
|
|
15
|
(HPO:0006695)
|
Atrioventricular canal defect |
Occasional [Orphanet]
|
|
24664498
|
IBIS
|
27 / 7739
|
|
16
|
(HPO:0001643)
|
Patent ductus arteriosus |
Occasional [Orphanet]
7.5000 % [HPO]
|
|
24879328
|
IBIS
|
228 / 7739
|
|
17
|
(HPO:0003063)
|
Abnormality of the humerus |
Occasional [Orphanet]
|
|
25344219
|
IBIS
|
36 / 7739
|
|
18
|
(HPO:0009829)
|
Phocomelia |
Occasional [Orphanet]
10.9756 % [HPO]
|
|
25344219
|
IBIS
|
20 / 7739
|
|
19
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
17502954
|
IBIS
|
705 / 7739
|
|
20
|
(HPO:0002818)
|
Abnormality of the radius |
Frequent [Orphanet]
|
|
26243320
|
IBIS
|
96 / 7739
|
|
21
|
(HPO:0002984)
|
Hypoplasia of the radius |
37.8049 % [HPO]
|
|
25344219
|
IBIS
|
44 / 7739
|
|
22
|
(HPO:0009601)
|
Aplasia/Hypoplasia of the thumb |
Frequent [Orphanet]
|
|
26243320
|
IBIS
|
80 / 7739
|
|
23
|
(HPO:0009777)
|
Absent thumb |
|
|
1870097
|
IBIS
|
31 / 7739
|
|
24
|
(HPO:0000766)
|
Abnormality of the sternum |
7.5000 % [HPO]
|
|
25468972
|
IBIS
|
31 / 7739
|
|
25
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Frequent [Orphanet]
|
|
25344219
|
IBIS
|
149 / 7739
|
|
26
|
(HPO:0002943)
|
Thoracic scoliosis |
7.5000 % [HPO]
|
|
6519847
|
IBIS
|
12 / 7739
|
|
27
|
(HPO:0003468)
|
Abnormality of the vertebrae |
|
|
25344219
|
IBIS
|
77 / 7739
|
|
28
|
(HPO:0006101)
|
Finger syndactyly |
Occasional [Orphanet]
|
|
26243320
|
IBIS
|
198 / 7739
|
|
29
|
(HPO:0009751)
|
Aplasia of the pectoralis major muscle |
7.5000 % [HPO]
|
|
8730285
|
IBIS
|
8 / 7739
|
|
30
|
(HPO:0009944)
|
Partial duplication of thumb phalanx |
|
|
26243320
|
IBIS
|
7 / 7739
|
|
31
|
(OMIM)
|
Radial-ulnar anomalies |
|
|
12789647
|
IBIS
|
1 / 7739
|
|
32
|
(OMIM)
|
Asymmetric involvement |
|
|
8730285
|
IBIS
|
1 / 7739
|
|
33
|
(HPO:0001172)
|
Abnormality of the thumb |
Occasional [Orphanet]
|
|
26243320
|
IBIS
|
103 / 7739
|
|
34
|
(HPO:0012303)
|
Abnormality of the aortic arch |
Occasional [Orphanet]
|
|
18685167
|
IBIS
|
57 / 7739
|
|
35
|
(HPO:0011025)
|
Abnormality of cardiovascular system physiology |
Frequent [Orphanet]
|
|
25344219
|
IBIS
|
41 / 7739
|
|
36
|
(HPO:0001227)
|
Abnormality of the thenar eminence |
|
|
18351627
|
IBIS
|
1 / 7739
|
|
37
|
(HPO:0001678)
|
Atrioventricular block |
|
|
25216260
|
IBIS
|
59 / 7739
|
|
38
|
(MedDRA:10000032)
|
Cardiac conduction disorders |
|
|
25216260
|
IBIS
|
5 / 7739
|
|
39
|
(HPO:0011675)
|
Arrhythmia |
|
|
25216260
|
IBIS
|
226 / 7739
|
|
40
|
(OMIM)
|
Limited forearm pronation and supination |
|
|
14402857
|
IBIS
|
3 / 7739
|
|
41
|
(HPO:0002973)
|
Abnormality of the forearm |
|
|
14402857
|
IBIS
|
3 / 7739
|
|
42
|
(OMIM)
|
Congenital heart malformation |
|
|
25216260
|
IBIS
|
3 / 7739
|
|
43
|
(HPO:0002817)
|
Abnormality of the upper limb |
|
|
26243320
|
IBIS
|
25 / 7739
|
|
44
|
(HPO:0001688)
|
Sinus bradycardia |
|
|
15292570
|
IBIS
|
18 / 7739
|
|
45
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
25216260
|
IBIS
|
355 / 7739
|