|
1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
Very frequent [Orphanet]
|
|
|
|
105 / 7739
|
|
3
|
(HPO:0100593)
|
Calcification of cartilage |
Very frequent [Orphanet]
|
|
|
|
4 / 7739
|
|
4
|
(HPO:0012086)
|
Abnormal urinary color |
Very frequent [Orphanet]
|
|
|
|
19 / 7739
|
|
5
|
(HPO:0005103)
|
Calcification of the auricular cartilage |
Very frequent [Orphanet]
|
|
|
|
3 / 7739
|
|
6
|
(HPO:0000024)
|
Prostatitis |
Frequent [Orphanet]
|
|
|
|
4 / 7739
|
|
7
|
(HPO:0002758)
|
Osteoarthritis |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
8
|
(HPO:0005059)
|
Arthralgia/arthritis |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
9
|
(HPO:0000592)
|
Blue sclerae |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
10
|
(HPO:0001369)
|
Arthritis |
|
|
|
|
44 / 7739
|
|
11
|
(HPO:0100769)
|
Synovitis |
Very frequent [Orphanet]
|
|
|
|
86 / 7739
|
|
12
|
(HPO:0002621)
|
Atherosclerosis |
Occasional [Orphanet]
|
|
|
|
33 / 7739
|
|
13
|
(HPO:0100550)
|
Tendon rupture |
Frequent [Orphanet]
|
|
|
|
17 / 7739
|
|
14
|
(HPO:0002763)
|
Abnormal cartilage morphology |
Very frequent [Orphanet]
|
|
|
|
15 / 7739
|
|
15
|
(HPO:0100773)
|
Cartilage destruction |
Frequent [Orphanet]
|
|
|
|
7 / 7739
|
|
16
|
(HPO:0007400)
|
Irregular hyperpigmentation |
Very frequent [Orphanet]
|
|
|
|
72 / 7739
|
|
17
|
(HPO:0000787)
|
Nephrolithiasis |
Frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
18
|
(HPO:0004337)
|
Abnormality of amino acid metabolism |
Very frequent [Orphanet]
|
|
|
|
45 / 7739
|
|
19
|
(HPO:0000478)
|
Abnormality of the eye |
Very frequent [Orphanet]
|
|
|
|
126 / 7739
|
|
20
|
(HPO:0001654)
|
Abnormality of the heart valves |
Frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
21
|
(HPO:0000822)
|
Hypertension |
Occasional [Orphanet]
|
|
|
|
224 / 7739
|
|
22
|
(HPO:0005645)
|
Intervertebral disk calcification |
Very frequent [Orphanet]
|
|
|
|
2 / 7739
|
|
23
|
(HPO:0000366)
|
Abnormality of the nose |
Frequent [Orphanet]
|
|
|
|
56 / 7739
|
|
24
|
(HPO:0000598)
|
Abnormality of the ear |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
25
|
(HPO:0001597)
|
Abnormality of the nail |
Frequent [Orphanet]
|
|
|
|
115 / 7739
|
|
26
|
(HPO:0003468)
|
Abnormality of the vertebrae |
Very frequent [Orphanet]
|
|
|
|
77 / 7739
|
|
27
|
(HPO:0000079)
|
Abnormality of the urinary system |
|
|
|
|
88 / 7739
|
|
28
|
(HPO:0001507)
|
Growth abnormality |
|
|
|
|
36 / 7739
|
|
29
|
(HPO:0001646)
|
Abnormality of the aortic valve |
Frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
30
|
(HPO:0001677)
|
Coronary artery disease |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
|
31
|
(HPO:0001717)
|
Coronary artery calcification |
|
|
|
|
4 / 7739
|
|
32
|
(HPO:0001724)
|
Aortic dilatation |
|
|
|
|
24 / 7739
|
|
33
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
34
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
35
|
(HPO:0002948)
|
Vertebral fusion |
|
|
|
|
28 / 7739
|
|
36
|
(HPO:0003040)
|
Arthropathy |
|
|
|
|
19 / 7739
|
|
37
|
(HPO:0003418)
|
Back pain |
|
|
|
|
17 / 7739
|
|
38
|
(HPO:0004349)
|
Reduced bone mineral density |
Occasional [Orphanet]
|
|
|
|
165 / 7739
|
|
39
|
(HPO:0004380)
|
Aortic valve calcification |
|
|
|
|
5 / 7739
|
|
40
|
(HPO:0004382)
|
Mitral valve calcification |
|
|
|
|
5 / 7739
|
|
41
|
(HPO:0004690)
|
Thickened Achilles tendon |
|
|
|
|
1 / 7739
|
|
42
|
(HPO:0007832)
|
Pigmentation of the sclera |
|
|
|
|
1 / 7739
|
|
43
|
(HPO:0008419)
|
Intervertebral disc degeneration |
|
|
|
|
2 / 7739
|
|
44
|
(OMIM)
|
Height loss secondary to spinal changes |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Pigmentation of the ear cartilage |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Ochronotic prostate stones |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Ochronotic pigmentation of fibrous tissues including cartilage, tendons, ligaments |
|
|
|
|
1 / 7739
|
|
48
|
(OMIM)
|
Ochronotic arthritis |
|
|
|
|
1 / 7739
|
|
49
|
(OMIM)
|
Ochronotic arthropathy |
|
|
|
|
1 / 7739
|
|
50
|
(OMIM)
|
Chronic joint pain |
|
|
|
|
1 / 7739
|
|
51
|
(OMIM)
|
Decreased lumbar flexion |
|
|
|
|
1 / 7739
|
|
52
|
(OMIM)
|
Increased plasma homogentisic acid (HGA) |
|
|
|
|
1 / 7739
|
|
53
|
(OMIM)
|
Increased urinary HGA |
|
|
|
|
1 / 7739
|
|
54
|
(OMIM)
|
Decreased liver homogentisate 1,2-dioxygenase activity |
|
|
|
|
1 / 7739
|
|
55
|
(HPO:0001367)
|
Abnormal joint morphology |
Very frequent [Orphanet]
|
|
|
|
53 / 7739
|
|
56
|
(HPO:0001633)
|
Abnormality of the mitral valve |
Frequent [Orphanet]
|
|
|
|
69 / 7739
|
|
57
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
58
|
(HPO:0002829)
|
Arthralgia |
|
|
|
|
79 / 7739
|