|
1
|
(HPO:0001947)
|
Renal tubular acidosis |
Very frequent [IBIS]
|
|
15703948
|
IBIS
|
21 / 7739
|
|
2
|
(HPO:0001995)
|
Hyperchloremic acidosis |
Very frequent [IBIS]
|
|
15703948
|
IBIS
|
4 / 7739
|
|
3
|
(HPO:0002049)
|
Proximal renal tubular acidosis |
Very frequent [IBIS]
|
|
15703948
|
IBIS
|
8 / 7739
|
|
4
|
(HPO:0004918)
|
Hyperchloremic metabolic acidosis |
Very frequent [IBIS]
|
|
15703948
|
IBIS
|
6 / 7739
|
|
5
|
(HPO:0001996)
|
Chronic metabolic acidosis |
Very frequent [IBIS]
|
|
15703948
|
IBIS
|
3 / 7739
|
|
6
|
(HPO:0001508)
|
Failure to thrive |
Frequent [IBIS]
|
|
15703948
|
IBIS
|
454 / 7739
|
|
7
|
(HPO:0004322)
|
Short stature |
|
|
15085340
|
IBIS
|
1232 / 7739
|
|
8
|
(HPO:0002148)
|
Hypophosphatemia |
|
|
15703948
|
IBIS
|
43 / 7739
|
|
9
|
(HPO:0001510)
|
Growth delay |
|
|
15703948
|
IBIS
|
295 / 7739
|
|
10
|
(HPO:0002013)
|
Vomiting |
|
|
15703948
|
IBIS
|
191 / 7739
|
|
11
|
(HPO:0002019)
|
Constipation |
|
|
15703948
|
IBIS
|
194 / 7739
|
|
12
|
(HPO:0002039)
|
Anorexia |
|
|
15703948
|
IBIS
|
62 / 7739
|
|
13
|
(HPO:0000103)
|
Polyuria |
|
|
15703948
|
IBIS
|
60 / 7739
|
|
14
|
(OMIM)
|
Ocular abnormalities |
|
|
15085340
|
IBIS
|
2 / 7739
|
|
15
|
(HPO:0000478)
|
Abnormality of the eye |
|
|
15085340
|
IBIS
|
126 / 7739
|
|
16
|
(HPO:0002900)
|
Hypokalemia |
|
|
15703948
|
IBIS
|
45 / 7739
|
|
17
|
(HPO:0001249)
|
Intellectual disability |
|
|
15085340
|
IBIS
|
1089 / 7739
|
|
18
|
(HPO:0000585)
|
Band keratopathy |
|
|
15085340
|
IBIS
|
8 / 7739
|
|
19
|
(HPO:0000518)
|
Cataract |
|
|
15085340
|
IBIS
|
454 / 7739
|
|
20
|
(HPO:0000501)
|
Glaucoma |
|
|
15085340
|
IBIS
|
180 / 7739
|
|
21
|
(OMIM)
|
Low serum bicarbonate |
|
|
15085340
|
IBIS
|
2 / 7739
|
|
22
|
(HPO:0004910)
|
Bicarbonate-wasting renal tubular acidosis |
|
|
15085340
|
IBIS
|
3 / 7739
|
|
23
|
(HPO:0000097)
|
Focal segmental glomerulosclerosis |
|
|
15085340
|
IBIS
|
37 / 7739
|
|
24
|
(HPO:0005576)
|
Tubulointerstitial fibrosis |
|
|
15085340
|
IBIS
|
32 / 7739
|
|
25
|
(HPO:0000092)
|
Tubular atrophy |
|
|
15085340
|
IBIS
|
28 / 7739
|
|
26
|
(HPO:0007759)
|
Opacification of the corneal stroma |
|
|
15085340
|
IBIS
|
77 / 7739
|
|
27
|
(HPO:0009917)
|
Persistent pupillary membrane |
|
|
15085340
|
IBIS
|
6 / 7739
|
|
28
|
(HPO:0007906)
|
Increased intraocular pressure |
|
|
15085340
|
IBIS
|
30 / 7739
|
|
29
|
(HPO:0000938)
|
Osteopenia |
|
|
15085340
|
IBIS
|
138 / 7739
|
|
30
|
(MedDRA:10024574)
|
Lipase increased |
|
|
15085340
|
IBIS
|
1 / 7739
|
|
31
|
(HPO:0003401)
|
Paresthesia |
|
|
15085340
|
IBIS
|
42 / 7739
|
|
32
|
(HPO:0002315)
|
Headache |
|
|
15085340
|
IBIS
|
175 / 7739
|
|
33
|
(HPO:0002135)
|
Basal ganglia calcification |
|
|
15085340
|
IBIS
|
37 / 7739
|
|
34
|
(HPO:0002514)
|
Cerebral calcification |
|
|
15085340
|
IBIS
|
89 / 7739
|
|
35
|
(HPO:0000256)
|
Macrocephaly |
|
|
15085340
|
IBIS
|
298 / 7739
|
|
36
|
(HPO:0000682)
|
Abnormality of dental enamel |
|
|
15085340
|
IBIS
|
102 / 7739
|