|
1
|
(HPO:0000117)
|
Renal phosphate wasting |
|
|
|
|
14 / 7739
|
|
2
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
3
|
(HPO:0000897)
|
Rachitic rosary |
|
|
|
|
5 / 7739
|
|
4
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
5
|
(HPO:0002148)
|
Hypophosphatemia |
|
|
|
|
43 / 7739
|
|
6
|
(HPO:0002653)
|
Bone pain |
|
|
|
|
75 / 7739
|
|
7
|
(HPO:0002748)
|
Rickets |
|
|
|
|
41 / 7739
|
|
8
|
(HPO:0003072)
|
Hypercalcemia |
|
|
|
|
36 / 7739
|
|
9
|
(HPO:0003165)
|
Elevated circulating parathyroid hormone level |
|
|
|
|
17 / 7739
|
|
10
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
11
|
(HPO:0007099)
|
Arnold-Chiari type I malformation |
|
|
|
|
18 / 7739
|
|
12
|
(HPO:0008208)
|
Parathyroid hyperplasia |
|
|
|
|
3 / 7739
|
|
13
|
(OMIM)
|
Dysplasia of nasal bones with midface protrusion |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Bowing of lower extremities |
|
|
|
|
2 / 7739
|
|
15
|
(OMIM)
|
Arnold-Chiari I malformation |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Parathyroid hyperplasia, benign |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Translocation of chromosomes 9 and 13 |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
19
|
(HPO:0000843)
|
Hyperparathyroidism |
|
|
|
|
17 / 7739
|
|
20
|
(HPO:0004912)
|
Hypophosphatemic rickets |
|
|
|
|
13 / 7739
|