|
1
|
(HPO:0000015)
|
Bladder diverticulum |
|
|
|
|
15 / 7739
|
|
2
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
3
|
(HPO:0000044)
|
Hypogonadotrophic hypogonadism |
|
|
|
|
56 / 7739
|
|
4
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
|
5
|
(HPO:0000070)
|
Ureterocele |
|
|
|
|
5 / 7739
|
|
6
|
(HPO:0000072)
|
Hydroureter |
|
|
|
|
146 / 7739
|
|
7
|
(HPO:0000076)
|
Vesicoureteral reflux |
|
|
|
|
94 / 7739
|
|
8
|
(HPO:0000081)
|
Duplicated collecting system |
|
|
|
|
16 / 7739
|
|
9
|
(HPO:0000104)
|
Renal agenesis |
|
|
|
|
68 / 7739
|
|
10
|
(HPO:0000110)
|
Renal dysplasia |
|
|
|
|
44 / 7739
|
|
11
|
(HPO:0000126)
|
Hydronephrosis |
|
|
|
|
119 / 7739
|
|
12
|
(HPO:0000145)
|
Transverse vaginal septum |
|
|
|
|
4 / 7739
|
|
13
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
14
|
(HPO:0000198)
|
Absence of Stensen duct |
|
|
|
|
4 / 7739
|
|
15
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
|
16
|
(HPO:0000217)
|
Xerostomia |
|
|
|
|
35 / 7739
|
|
17
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
18
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
|
19
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
20
|
(HPO:0000437)
|
Depressed nasal tip |
|
|
|
|
17 / 7739
|
|
21
|
(HPO:0000453)
|
Choanal atresia |
|
|
|
|
76 / 7739
|
|
22
|
(HPO:0000498)
|
Blepharitis |
|
|
|
|
27 / 7739
|
|
23
|
(HPO:0000535)
|
Sparse and thin eyebrow |
|
|
|
|
76 / 7739
|
|
24
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
|
25
|
(HPO:0000613)
|
Photophobia |
|
|
|
|
158 / 7739
|
|
26
|
(HPO:0000620)
|
Dacryocystitis |
|
|
|
|
4 / 7739
|
|
27
|
(HPO:0000635)
|
Blue irides |
|
|
|
|
25 / 7739
|
|
28
|
(HPO:0000653)
|
Sparse eyelashes |
|
|
|
|
58 / 7739
|
|
29
|
(HPO:0000670)
|
Carious teeth |
|
|
|
|
145 / 7739
|
|
30
|
(HPO:0000691)
|
Microdontia |
|
|
|
|
104 / 7739
|
|
31
|
(HPO:0000824)
|
Growth hormone deficiency |
|
|
|
|
56 / 7739
|
|
32
|
(HPO:0000863)
|
Central diabetes insipidus |
|
|
|
|
7 / 7739
|
|
33
|
(HPO:0000962)
|
Hyperkeratosis |
|
|
|
|
216 / 7739
|
|
34
|
(HPO:0000968)
|
Ectodermal dysplasia |
|
|
|
|
46 / 7739
|
|
35
|
(HPO:0001171)
|
Split hand |
|
|
|
|
72 / 7739
|
|
36
|
(HPO:0001249)
|
Intellectual disability |
7% [HPO:probinson]
|
|
|
|
1089 / 7739
|
|
37
|
(HPO:0001592)
|
Selective tooth agenesis |
|
|
|
|
16 / 7739
|
|
38
|
(HPO:0001739)
|
Abnormality of the nasopharynx |
|
|
|
|
16 / 7739
|
|
39
|
(HPO:0001770)
|
Toe syndactyly |
|
|
|
|
149 / 7739
|
|
40
|
(HPO:0001803)
|
Nail pits |
|
|
|
|
17 / 7739
|
|
41
|
(HPO:0001839)
|
Split foot |
|
|
|
|
28 / 7739
|
|
42
|
(HPO:0002209)
|
Sparse scalp hair |
|
|
|
|
59 / 7739
|
|
43
|
(HPO:0002215)
|
Sparse axillary hair |
|
|
|
|
21 / 7739
|
|
44
|
(HPO:0002225)
|
Sparse pubic hair |
|
|
|
|
76 / 7739
|
|
45
|
(HPO:0002286)
|
Fair hair |
|
|
|
|
20 / 7739
|
|
46
|
(HPO:0002557)
|
Hypoplastic nipples |
|
|
|
|
33 / 7739
|
|
47
|
(HPO:0007513)
|
Generalized hypopigmentation |
|
|
|
|
12 / 7739
|
|
48
|
(HPO:0008404)
|
Nail dystrophy |
|
|
|
|
89 / 7739
|
|
49
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
|
50
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
|
51
|
(MedDRA:10011844)
|
Dacryocystitis |
|
|
|
|
4 / 7739
|
|
52
|
(OMIM)
|
Lacrimal duct abnormalities |
|
|
|
|
3 / 7739
|
|
53
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
|
54
|
(HPO:0100257)
|
Ectrodactyly |
|
|
|
|
27 / 7739
|
|
55
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|