|
1
|
(HPO:0000130)
|
Abnormality of the uterus |
Very frequent [Orphanet]
|
|
|
|
86 / 7739
|
|
2
|
(HPO:0009882)
|
Short distal phalanx of finger |
Very frequent [Orphanet]
|
|
|
|
125 / 7739
|
|
3
|
(HPO:0005048)
|
Synostosis of carpal bones |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
4
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
|
|
|
|
288 / 7739
|
|
5
|
(HPO:0000076)
|
Vesicoureteral reflux |
Frequent [Orphanet]
|
|
|
|
94 / 7739
|
|
6
|
(HPO:0010769)
|
Pilonidal sinus |
Occasional [Orphanet]
|
|
|
|
35 / 7739
|
|
7
|
(HPO:0001162)
|
Postaxial hand polydactyly |
Occasional [Orphanet]
|
|
|
|
119 / 7739
|
|
8
|
(HPO:0010109)
|
Short hallux |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
|
9
|
(HPO:0010488)
|
Aplasia/Hypoplasia of the palmar creases |
Frequent [Orphanet]
|
|
|
|
15 / 7739
|
|
10
|
(HPO:0001629)
|
Ventricular septal defect |
Occasional [Orphanet]
|
|
|
|
316 / 7739
|
|
11
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
|
12
|
(HPO:0000010)
|
Recurrent urinary tract infections |
Frequent [Orphanet]
|
|
|
|
56 / 7739
|
|
13
|
(HPO:0000795)
|
Abnormality of the urethra |
Frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
14
|
(HPO:0007477)
|
Abnormal dermatoglyphics |
Frequent [Orphanet]
|
|
|
|
72 / 7739
|
|
15
|
(HPO:0001850)
|
Abnormality of the tarsal bones |
Very frequent [Orphanet]
|
|
|
|
40 / 7739
|
|
16
|
(HPO:0009601)
|
Aplasia/Hypoplasia of the thumb |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
17
|
(HPO:0000041)
|
Chordee |
|
|
|
|
11 / 7739
|
|
18
|
(HPO:0000047)
|
Hypospadias |
Frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
19
|
(HPO:0000048)
|
Bifid scrotum |
|
|
|
|
36 / 7739
|
|
20
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
|
21
|
(HPO:0000074)
|
Ureteropelvic junction obstruction |
|
|
|
|
15 / 7739
|
|
22
|
(HPO:0000083)
|
Renal insufficiency |
|
|
|
|
232 / 7739
|
|
23
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
24
|
(HPO:0001216)
|
Delayed ossification of carpal bones |
|
|
|
|
30 / 7739
|
|
25
|
(HPO:0001245)
|
Small thenar eminence |
|
|
|
|
10 / 7739
|
|
26
|
(HPO:0001885)
|
Short 2nd toe |
|
|
|
|
4 / 7739
|
|
27
|
(HPO:0003762)
|
Uterus didelphys |
|
|
|
|
8 / 7739
|
|
28
|
(HPO:0006110)
|
Shortening of all middle phalanges of the fingers |
|
|
|
|
7 / 7739
|
|
29
|
(HPO:0008080)
|
Hallux varus |
|
|
|
|
3 / 7739
|
|
30
|
(HPO:0008103)
|
Delayed tarsal ossification |
|
|
|
|
3 / 7739
|
|
31
|
(HPO:0008740)
|
Longitudinal vaginal septum |
|
|
|
|
3 / 7739
|
|
32
|
(HPO:0009237)
|
Short 5th finger |
|
|
|
|
16 / 7739
|
|
33
|
(HPO:0009464)
|
Ulnar deviation of the 2nd finger |
|
|
|
|
6 / 7739
|
|
34
|
(HPO:0009623)
|
Proximal placement of thumb |
|
|
|
|
50 / 7739
|
|
35
|
(HPO:0010034)
|
Short 1st metacarpal |
|
|
|
|
19 / 7739
|
|
36
|
(HPO:0010105)
|
Short first metatarsal |
|
|
|
|
4 / 7739
|
|
37
|
(HPO:0010584)
|
Pseudoepiphyses |
|
|
|
|
3 / 7739
|
|
38
|
(OMIM)
|
Double cervix |
|
|
|
|
1 / 7739
|
|
39
|
(MedDRA:10037601)
|
Pyelonephritis chronic |
|
|
|
|
2 / 7739
|
|
40
|
(MedDRA:10038533)
|
Renal transplant |
|
|
|
|
1 / 7739
|
|
41
|
(HPO:0009778)
|
Short thumb |
|
|
|
|
50 / 7739
|
|
42
|
(HPO:0005819)
|
Short middle phalanx of finger |
|
|
|
|
28 / 7739
|
|
43
|
(OMIM)
|
Absent halluces |
|
|
|
|
2 / 7739
|
|
44
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
45
|
(OMIM)
|
Hypoplastic distal and middle phalanges |
|
|
|
|
3 / 7739
|
|
46
|
(OMIM)
|
Fused cuneiforms |
|
|
|
|
1 / 7739
|
|
47
|
(HPO:0008772)
|
Aplasia/Hypoplasia of the external ear |
Occasional [Orphanet]
|
|
|
|
67 / 7739
|
|
48
|
(HPO:0000069)
|
Abnormality of the ureter |
Very frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
49
|
(HPO:0006494)
|
Aplasia/Hypoplasia involving bones of the feet |
Frequent [Orphanet]
|
|
|
|
69 / 7739
|
|
50
|
(HPO:0001800)
|
Hypoplastic toenails |
Frequent [Orphanet]
|
|
|
|
74 / 7739
|
|
51
|
(HPO:0005268)
|
Spontaneous abortion |
Occasional [Orphanet]
|
|
|
|
15 / 7739
|
|
52
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|