1
|
(HPO:0000112)
|
Nephropathy |
Very frequent [Orphanet]
|
|
|
|
92 / 7739
|
2
|
(HPO:0000787)
|
Nephrolithiasis |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
3
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
4
|
(HPO:0003103)
|
Abnormal cortical bone morphology |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
5
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
6
|
(HPO:0004349)
|
Reduced bone mineral density |
Very frequent [Orphanet]
|
|
|
|
165 / 7739
|
7
|
(HPO:0011001)
|
Increased bone mineral density |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
8
|
(HPO:0004599)
|
Absent or minimally ossified vertebral bodies |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
9
|
(HPO:0002659)
|
Increased susceptibility to fractures |
Frequent [Orphanet]
|
|
|
|
110 / 7739
|
10
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
11
|
(HPO:0000083)
|
Renal insufficiency |
|
|
|
|
232 / 7739
|
12
|
(HPO:0000121)
|
Nephrocalcinosis |
|
|
|
|
57 / 7739
|
13
|
(HPO:0000488)
|
Retinopathy |
|
|
|
|
75 / 7739
|
14
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
15
|
(HPO:0000790)
|
Hematuria |
|
|
|
|
106 / 7739
|
16
|
(HPO:0000965)
|
Cutis marmorata |
|
|
|
|
46 / 7739
|
17
|
(HPO:0001063)
|
Acrocyanosis |
|
|
|
|
56 / 7739
|
18
|
(HPO:0001138)
|
Optic neuropathy |
|
|
|
|
12 / 7739
|
19
|
(HPO:0001678)
|
Atrioventricular block |
|
|
|
|
59 / 7739
|
20
|
(HPO:0001942)
|
Metabolic acidosis |
|
|
|
|
81 / 7739
|
21
|
(HPO:0002653)
|
Bone pain |
|
|
|
|
75 / 7739
|
22
|
(HPO:0002756)
|
Pathologic fracture |
|
|
|
|
30 / 7739
|
23
|
(HPO:0003159)
|
Hyperoxaluria |
|
|
|
|
6 / 7739
|
24
|
(HPO:0004417)
|
Intermittent claudication |
|
|
|
|
10 / 7739
|
25
|
(HPO:0005315)
|
Peripheral artery occlusive disease |
|
|
|
|
7 / 7739
|
26
|
(HPO:0008672)
|
Calcium oxalate nephrolithiasis |
|
|
|
|
10 / 7739
|
27
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|
28
|
(HPO:0030507)
|
Retinal crystals |
|
|
|
|
1 / 7739
|
29
|
(HPO:0100758)
|
Gangrene |
|
|
|
|
25 / 7739
|