|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000081)
|
Duplicated collecting system |
|
|
|
|
16 / 7739
|
|
3
|
(HPO:0000085)
|
Horseshoe kidney |
|
|
|
|
39 / 7739
|
|
4
|
(HPO:0000086)
|
Ectopic kidney |
|
|
|
|
29 / 7739
|
|
5
|
(HPO:0000104)
|
Renal agenesis |
|
|
|
|
68 / 7739
|
|
6
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
7
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
8
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
9
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
10
|
(HPO:0000815)
|
Hypergonadotropic hypogonadism |
|
|
|
|
48 / 7739
|
|
11
|
(HPO:0000957)
|
Cafe-au-lait spot |
|
|
|
|
84 / 7739
|
|
12
|
(HPO:0000978)
|
Bruising susceptibility |
|
|
|
|
123 / 7739
|
|
13
|
(HPO:0001017)
|
Anemic pallor |
|
|
|
|
5 / 7739
|
|
14
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
15
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
|
16
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
17
|
(HPO:0001875)
|
Neutropenia |
|
|
|
|
83 / 7739
|
|
18
|
(HPO:0001876)
|
Pancytopenia |
|
|
|
|
89 / 7739
|
|
19
|
(HPO:0001896)
|
Reticulocytopenia |
|
|
|
|
12 / 7739
|
|
20
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
|
21
|
(HPO:0001909)
|
Leukemia |
|
|
|
|
46 / 7739
|
|
22
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|
|
23
|
(HPO:0003213)
|
Deficient excision of UV-induced pyrimidine dimers in DNA |
|
|
|
|
5 / 7739
|
|
24
|
(HPO:0003214)
|
Prolonged G2 phase of cell cycle |
|
|
|
|
5 / 7739
|
|
25
|
(HPO:0003221)
|
Chromosomal breakage induced by crosslinking agents |
|
|
|
|
8 / 7739
|
|
26
|
(HPO:0003974)
|
Absent radius |
|
|
|
|
26 / 7739
|
|
27
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
28
|
(HPO:0009777)
|
Absent thumb |
|
|
|
|
31 / 7739
|
|
29
|
(HPO:0009778)
|
Short thumb |
|
|
|
|
50 / 7739
|
|
30
|
(HPO:0009943)
|
Complete duplication of thumb phalanx |
|
|
|
|
8 / 7739
|
|
31
|
(HPO:0001172)
|
Abnormality of the thumb |
|
|
|
|
103 / 7739
|
|
32
|
(HPO:0012210)
|
Abnormal renal morphology |
|
|
|
|
18 / 7739
|
|
33
|
(OMIM)
|
Duplicated kidney |
|
|
|
|
4 / 7739
|
|
34
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
|
|
|
|
105 / 7739
|
|
35
|
(OMIM)
|
Hyperpigmentation |
|
|
|
|
24 / 7739
|
|
36
|
(HPO:0000598)
|
Abnormality of the ear |
|
|
|
|
98 / 7739
|
|
37
|
(HPO:0003220)
|
Abnormality of chromosome stability |
|
|
|
|
98 / 7739
|
|
38
|
(OMIM)
|
Chromosomal breakage induced by diepoxybutane (DEB), and mitomycin C |
|
|
|
|
3 / 7739
|
|
39
|
(HPO:0001892)
|
Abnormal bleeding |
|
|
|
|
85 / 7739
|
|
40
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|