|
1
|
(HPO:0000121)
|
Nephrocalcinosis |
|
|
|
|
57 / 7739
|
|
2
|
(HPO:0000679)
|
Taurodontia |
|
|
|
|
27 / 7739
|
|
3
|
(HPO:0000951)
|
Abnormality of the skin |
|
|
|
|
147 / 7739
|
|
4
|
(HPO:0001102)
|
Angioid streaks of the retina |
|
|
|
|
11 / 7739
|
|
5
|
(HPO:0002905)
|
Hyperphosphatemia |
|
|
|
|
18 / 7739
|
|
6
|
(HPO:0003771)
|
Pulp stones |
|
|
|
|
6 / 7739
|
|
7
|
(HPO:0004934)
|
Vascular calcification |
|
|
|
|
3 / 7739
|
|
8
|
(HPO:0005571)
|
Increased renal tubular phosphate reabsorption |
|
|
|
|
1 / 7739
|
|
9
|
(HPO:0005572)
|
Decreased renal tubular phosphate excretion |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0006297)
|
Hypoplasia of dental enamel |
|
|
|
|
64 / 7739
|
|
11
|
(HPO:0007799)
|
Conjunctival whitish salt-like deposits |
|
|
|
|
1 / 7739
|
|
12
|
(MedDRA:10010725)
|
Conjunctival irritation |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Obliterated tooth pulp cavities |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Disturbed root development |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Short blunt tooth roots |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Swirled radicular dentin deposits |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Calcinosis of the renal parenchyma |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Tumoral calcinosis |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Ectopic periarticular calcified masses, painful (hip, elbow, shoulder) |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Progressive deposition of basic calcium phosphate crystals |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Painful swellings of the long bones, acute, recurrent attacks |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Cortical hyperostosis |
|
|
|
|
3 / 7739
|
|
23
|
(OMIM)
|
Periosteal reaction |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Diaphysitis |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Radiography shows porotic changes |
|
|
|
|
1 / 7739
|
|
26
|
(HPO:0003881)
|
Humeral sclerosis |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Deposition of calcium phosphate crystals in skin and subcutaneous tissues |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Normal to elevated serum 1,25-dihydroxycholecalciferol (calcitriol) |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Increased serum FGF23 |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Normal serum calcium |
|
|
|
|
9 / 7739
|
|
31
|
(OMIM)
|
Normal serum parathyroid hormone (PTH) |
|
|
|
|
2 / 7739
|
|
32
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
33
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|
|
34
|
(HPO:0003761)
|
Calcinosis |
|
|
|
|
12 / 7739
|