1
|
(HPO:0000121)
|
Nephrocalcinosis |
Very frequent [IBIS]
|
|
14246093
|
IBIS
|
57 / 7739
|
2
|
(HPO:0003072)
|
Hypercalcemia |
Very frequent [IBIS]
|
|
14246093
|
IBIS
|
36 / 7739
|
3
|
(OMIM)
|
Intestinal tryptophan transport defective |
Very frequent [IBIS]
|
|
15918515
|
IBIS
|
1 / 7739
|
4
|
(OMIM)
|
Indicanuria |
Very frequent [IBIS]
|
|
14246093
|
IBIS
|
1 / 7739
|
5
|
(HPO:0004365)
|
Abnormality of tryptophan metabolism |
Very frequent [IBIS]
|
|
15918515
|
IBIS
|
4 / 7739
|
6
|
(HPO:0003361)
|
Tryptophanuria |
Very frequent [IBIS]
|
|
14246093
|
IBIS
|
3 / 7739
|
7
|
(HPO:0003510)
|
Severe short stature |
Frequent [IBIS]
|
|
1818237
|
IBIS
|
90 / 7739
|
8
|
(HPO:0001363)
|
Craniosynostosis |
Frequent [IBIS]
|
|
1818237
|
IBIS
|
132 / 7739
|
9
|
(HPO:0005789)
|
Generalized osteosclerosis |
Frequent [IBIS]
|
|
1818237
|
IBIS
|
10 / 7739
|
10
|
(HPO:0000482)
|
Microcornea |
|
|
1818237
|
IBIS
|
102 / 7739
|
11
|
(HPO:0007766)
|
Optic disc hypoplasia |
|
|
1818237
|
IBIS
|
7 / 7739
|
12
|
(HPO:0000496)
|
Abnormality of eye movement |
|
|
1818237
|
IBIS
|
79 / 7739
|
13
|
(HPO:0001249)
|
Intellectual disability |
|
|
1818237
|
IBIS
|
1089 / 7739
|
14
|
(HPO:0000083)
|
Renal insufficiency |
|
|
1818237
|
IBIS
|
232 / 7739
|
15
|
(HPO:0000286)
|
Epicanthus |
|
|
1818237
|
IBIS
|
371 / 7739
|
16
|
(HPO:0000639)
|
Nystagmus |
|
|
1818237
|
IBIS
|
555 / 7739
|
17
|
(HPO:0000486)
|
Strabismus |
|
|
1818237
|
IBIS
|
576 / 7739
|
18
|
(HPO:0001085)
|
Papilledema |
|
|
1818237
|
IBIS
|
31 / 7739
|
19
|
(HPO:0000648)
|
Optic atrophy |
|
|
1818237
|
IBIS
|
238 / 7739
|
20
|
(HPO:0004428)
|
Elfin facies |
|
|
1818237
|
IBIS
|
5 / 7739
|
21
|
(HPO:0002039)
|
Anorexia |
|
|
1818237
|
IBIS
|
62 / 7739
|
22
|
(HPO:0002013)
|
Vomiting |
|
|
1818237
|
IBIS
|
191 / 7739
|
23
|
(HPO:0012086)
|
Abnormal urinary color |
|
|
14246093
|
IBIS
|
19 / 7739
|
24
|
(HPO:0001945)
|
Fever |
|
|
14246093
|
IBIS
|
218 / 7739
|
25
|
(HPO:0000737)
|
Irritability |
|
|
14246093
|
IBIS
|
93 / 7739
|
26
|
(HPO:0000103)
|
Polyuria |
|
|
14246093
|
IBIS
|
60 / 7739
|
27
|
(HPO:0012085)
|
Pyuria |
|
|
14246093
|
IBIS
|
2 / 7739
|
28
|
(HPO:0012227)
|
Urethral stricture |
|
|
14246093
|
IBIS
|
5 / 7739
|