1
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
2
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
3
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
4
|
(HPO:0000048)
|
Bifid scrotum |
|
|
|
|
36 / 7739
|
5
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
6
|
(HPO:0000060)
|
Clitoral hypoplasia |
|
|
|
|
9 / 7739
|
7
|
(HPO:0000085)
|
Horseshoe kidney |
|
|
|
|
39 / 7739
|
8
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
9
|
(HPO:0000233)
|
Thin vermilion border |
|
|
|
|
124 / 7739
|
10
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
11
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
12
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
13
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
14
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
15
|
(HPO:0000378)
|
Cupped ear |
|
|
|
|
34 / 7739
|
16
|
(HPO:0000384)
|
Preauricular skin tag |
|
|
|
|
62 / 7739
|
17
|
(HPO:0000396)
|
Overfolded helix |
|
|
|
|
21 / 7739
|
18
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
19
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
20
|
(HPO:0000473)
|
Torticollis |
|
|
|
|
42 / 7739
|
21
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
22
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
23
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
24
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
25
|
(HPO:0000894)
|
Short clavicles |
|
|
|
|
30 / 7739
|
26
|
(HPO:0001162)
|
Postaxial hand polydactyly |
|
|
|
|
119 / 7739
|
27
|
(HPO:0001171)
|
Split hand |
|
|
|
|
72 / 7739
|
28
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
29
|
(HPO:0001363)
|
Craniosynostosis |
|
|
|
|
132 / 7739
|
30
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
31
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
32
|
(HPO:0001770)
|
Toe syndactyly |
|
|
|
|
149 / 7739
|
33
|
(HPO:0001831)
|
Short toe |
|
|
|
|
52 / 7739
|
34
|
(HPO:0001839)
|
Split foot |
|
|
|
|
28 / 7739
|
35
|
(HPO:0001840)
|
Metatarsus adductus |
|
|
|
|
49 / 7739
|
36
|
(HPO:0001841)
|
Preaxial foot polydactyly |
|
|
|
|
24 / 7739
|
37
|
(HPO:0002697)
|
Parietal foramina |
|
|
|
|
12 / 7739
|
38
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
39
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
40
|
(HPO:0002866)
|
Hypoplastic iliac wing |
|
|
|
|
34 / 7739
|
41
|
(HPO:0002869)
|
Flared iliac wings |
|
|
|
|
20 / 7739
|
42
|
(HPO:0002984)
|
Hypoplasia of the radius |
|
|
|
|
44 / 7739
|
43
|
(HPO:0003022)
|
Hypoplasia of the ulna |
|
|
|
|
40 / 7739
|
44
|
(HPO:0003038)
|
Fibular hypoplasia |
|
|
|
|
30 / 7739
|
45
|
(HPO:0003065)
|
Patellar hypoplasia |
|
|
|
|
8 / 7739
|
46
|
(HPO:0003083)
|
Dislocated radial head |
|
|
|
|
35 / 7739
|
47
|
(HPO:0003175)
|
Hypoplastic ischia |
|
|
|
|
12 / 7739
|
48
|
(HPO:0003182)
|
Shallow acetabular fossae |
|
|
|
|
10 / 7739
|
49
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
50
|
(HPO:0004058)
|
Hand monodactyly |
|
|
|
|
8 / 7739
|
51
|
(HPO:0004987)
|
Mesomelic leg shortening |
|
|
|
|
3 / 7739
|
52
|
(HPO:0005160)
|
Total anomalous pulmonary venous return |
|
|
|
|
4 / 7739
|
53
|
(HPO:0005613)
|
Aplasia/hypoplasia of the femur |
|
|
|
|
5 / 7739
|
54
|
(HPO:0006380)
|
Knee flexion contracture |
|
|
|
|
56 / 7739
|
55
|
(HPO:0006507)
|
Aplasia/hypoplasia of the humerus |
|
|
|
|
2 / 7739
|
56
|
(HPO:0007385)
|
Aplasia cutis congenita of scalp |
|
|
|
|
10 / 7739
|
57
|
(HPO:0008362)
|
Aplasia/Hypoplasia of the hallux |
|
|
|
|
4 / 7739
|
58
|
(HPO:0008386)
|
Aplasia/Hypoplasia of the nails |
|
|
|
|
4 / 7739
|
59
|
(HPO:0008830)
|
Hypoplastic pubic rami |
|
|
|
|
1 / 7739
|
60
|
(HPO:0005772)
|
Aplasia/Hypoplasia of the tibia |
|
|
|
|
2 / 7739
|
61
|
(HPO:0009556)
|
Absent tibia |
|
|
|
|
9 / 7739
|
62
|
(HPO:0009623)
|
Proximal placement of thumb |
|
|
|
|
50 / 7739
|
63
|
(HPO:0009756)
|
Popliteal pterygium |
|
|
|
|
9 / 7739
|
64
|
(HPO:0009760)
|
Antecubital pterygium |
|
|
|
|
5 / 7739
|
65
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
66
|
(HPO:0010561)
|
Undulate ribs |
|
|
|
|
2 / 7739
|
67
|
(HPO:0010743)
|
Short metatarsal |
|
|
|
|
56 / 7739
|
68
|
(HPO:0010781)
|
Skin dimples |
|
|
|
|
5 / 7739
|
69
|
(HPO:0010806)
|
U-Shaped upper lip vermilion |
|
|
|
|
18 / 7739
|
70
|
(HPO:0011304)
|
Broad thumb |
|
|
|
|
39 / 7739
|
71
|
(OMIM)
|
Cleft lobules |
|
|
|
|
1 / 7739
|
72
|
(OMIM)
|
Branchial pits |
|
|
|
|
1 / 7739
|
73
|
(OMIM)
|
Absent labia majora |
|
|
|
|
1 / 7739
|
74
|
(OMIM)
|
Prominent sacrum |
|
|
|
|
1 / 7739
|
75
|
(OMIM)
|
Vertical ischia |
|
|
|
|
2 / 7739
|
76
|
(HPO:0001059)
|
Pterygium |
|
|
|
|
16 / 7739
|
77
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
78
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
79
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
80
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
81
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
82
|
(OMIM)
|
Preaxial polydactyly with central gap |
|
|
|
|
1 / 7739
|
83
|
(OMIM)
|
Aberrant skin dimples (elbows and knees) |
|
|
|
|
1 / 7739
|
84
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
85
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|