1
|
(HPO:0000130)
|
Abnormality of the uterus |
Occasional [Orphanet]
|
|
|
|
86 / 7739
|
2
|
(HPO:0004378)
|
Abnormality of the anus |
Occasional [Orphanet]
|
|
|
|
34 / 7739
|
3
|
(HPO:0002084)
|
Encephalocele |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
4
|
(HPO:0001195)
|
Single umbilical artery |
Occasional [Orphanet]
|
|
|
|
23 / 7739
|
5
|
(HPO:0001539)
|
Omphalocele |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
6
|
(HPO:0005264)
|
Abnormality of the gallbladder |
Occasional [Orphanet]
|
|
|
|
14 / 7739
|
7
|
(HPO:0004760)
|
Congenital septal defect |
Frequent [Orphanet]
|
|
|
|
69 / 7739
|
8
|
(HPO:0012090)
|
Abnormality of pancreas morphology |
Occasional [Orphanet]
|
|
|
|
31 / 7739
|
9
|
(HPO:0000104)
|
Renal agenesis |
|
|
|
|
68 / 7739
|
10
|
(HPO:0002023)
|
Anal atresia |
Very frequent [Orphanet]
|
|
|
|
135 / 7739
|
11
|
(HPO:0002777)
|
Tracheal stenosis |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
12
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Frequent [Orphanet]
|
|
|
|
355 / 7739
|
13
|
(HPO:0000239)
|
Large fontanelles |
Occasional [Orphanet]
|
|
|
|
135 / 7739
|
14
|
(HPO:0005108)
|
Abnormality of the intervertebral disk |
Occasional [Orphanet]
|
|
|
|
12 / 7739
|
15
|
(HPO:0002818)
|
Abnormality of the radius |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
16
|
(HPO:0002984)
|
Hypoplasia of the radius |
|
|
|
|
44 / 7739
|
17
|
(HPO:0003974)
|
Absent radius |
|
|
|
|
26 / 7739
|
18
|
(HPO:0000072)
|
Hydroureter |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
19
|
(HPO:0000074)
|
Ureteropelvic junction obstruction |
|
|
|
|
15 / 7739
|
20
|
(HPO:0000126)
|
Hydronephrosis |
|
|
|
|
119 / 7739
|
21
|
(HPO:0001177)
|
Preaxial hand polydactyly |
Occasional [Orphanet]
|
|
|
|
59 / 7739
|
22
|
(HPO:0000048)
|
Bifid scrotum |
Occasional [Orphanet]
|
|
|
|
36 / 7739
|
23
|
(HPO:0001561)
|
Polyhydramnios |
Very frequent [Orphanet]
|
|
|
|
191 / 7739
|
24
|
(HPO:0002032)
|
Esophageal atresia |
|
|
|
|
19 / 7739
|
25
|
(HPO:0002575)
|
Tracheoesophageal fistula |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
26
|
(HPO:0001601)
|
Laryngomalacia |
Frequent [Orphanet]
|
|
|
|
61 / 7739
|
27
|
(HPO:0000086)
|
Ectopic kidney |
|
|
|
|
29 / 7739
|
28
|
(HPO:0000772)
|
Abnormality of the ribs |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
29
|
(HPO:0000110)
|
Renal dysplasia |
|
|
|
|
44 / 7739
|
30
|
(HPO:0001511)
|
Intrauterine growth retardation |
Occasional [Orphanet]
|
|
|
|
358 / 7739
|
31
|
(HPO:0000062)
|
Ambiguous genitalia |
Occasional [Orphanet]
|
|
|
|
74 / 7739
|
32
|
(HPO:0000054)
|
Micropenis |
Occasional [Orphanet]
|
|
|
|
257 / 7739
|
33
|
(HPO:0001622)
|
Premature birth |
Very frequent [Orphanet]
|
|
|
|
100 / 7739
|
34
|
(HPO:0000775)
|
Abnormality of the diaphragm |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|
35
|
(HPO:0002323)
|
Anencephaly |
Occasional [Orphanet]
|
|
|
|
28 / 7739
|
36
|
(HPO:0000795)
|
Abnormality of the urethra |
Occasional [Orphanet]
|
|
|
|
38 / 7739
|
37
|
(HPO:0001048)
|
Cavernous hemangioma |
Occasional [Orphanet]
|
|
|
|
28 / 7739
|
38
|
(HPO:0005107)
|
Abnormality of the sacrum |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
39
|
(HPO:0000047)
|
Hypospadias |
Occasional [Orphanet]
|
|
|
|
250 / 7739
|
40
|
(HPO:0000076)
|
Vesicoureteral reflux |
|
|
|
|
94 / 7739
|
41
|
(HPO:0000453)
|
Choanal atresia |
|
|
|
|
76 / 7739
|
42
|
(HPO:0000766)
|
Abnormality of the sternum |
|
|
|
|
31 / 7739
|
43
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
44
|
(HPO:0001199)
|
Triphalangeal thumb |
|
|
|
|
56 / 7739
|
45
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
46
|
(HPO:0001602)
|
Laryngeal stenosis |
|
|
|
|
21 / 7739
|
47
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
48
|
(HPO:0001636)
|
Tetralogy of Fallot |
|
|
|
|
104 / 7739
|
49
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
50
|
(HPO:0001669)
|
Transposition of the great arteries |
|
|
|
|
36 / 7739
|
51
|
(HPO:0001739)
|
Abnormality of the nasopharynx |
|
|
|
|
16 / 7739
|
52
|
(HPO:0002085)
|
Occipital encephalocele |
|
|
|
|
20 / 7739
|
53
|
(HPO:0002144)
|
Tethered cord |
|
|
|
|
8 / 7739
|
54
|
(HPO:0002414)
|
Spina bifida |
|
|
|
|
47 / 7739
|
55
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
56
|
(HPO:0002974)
|
Radioulnar synostosis |
|
|
|
|
52 / 7739
|
57
|
(HPO:0003422)
|
Vertebral segmentation defect |
Frequent [Orphanet]
|
|
|
|
95 / 7739
|
58
|
(HPO:0006101)
|
Finger syndactyly |
Occasional [Orphanet]
|
|
|
|
198 / 7739
|
59
|
(HPO:0006703)
|
Aplasia/Hypoplasia of the lungs |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
60
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Frequent [Orphanet]
|
|
|
|
127 / 7739
|
61
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
62
|
(HPO:0009778)
|
Short thumb |
|
|
|
|
50 / 7739
|
63
|
(HPO:0010479)
|
Patent urachus |
|
|
|
|
1 / 7739
|
64
|
(HPO:0100542)
|
Abnormal localization of kidney |
Frequent [Orphanet]
|
|
|
|
64 / 7739
|
65
|
(OMIM)
|
Tracheal agenesis |
|
|
|
|
1 / 7739
|
66
|
(HPO:0003468)
|
Abnormality of the vertebrae |
|
|
|
|
77 / 7739
|
67
|
(HPO:0100258)
|
Preaxial polydactyly |
|
|
|
|
39 / 7739
|
68
|
(OMIM)
|
Spinal dysrhaphia |
|
|
|
|
1 / 7739
|
69
|
(HPO:0011420)
|
Death |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
70
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
71
|
(HPO:0000357)
|
Abnormal location of ears |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
72
|
(HPO:0000107)
|
Renal cyst |
Occasional [Orphanet]
|
|
|
|
126 / 7739
|
73
|
(HPO:0000204)
|
Cleft upper lip |
Occasional [Orphanet]
|
|
|
|
193 / 7739
|
74
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
|
|
296 / 7739
|
75
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|