|
1
|
(HPO:0000852)
|
Pseudohypoparathyroidism |
|
|
|
|
6 / 7739
|
|
2
|
(HPO:0001156)
|
Brachydactyly syndrome |
rare [HPO:skoehler]
|
|
|
|
180 / 7739
|
|
3
|
(HPO:0001513)
|
Obesity |
rare [HPO:skoehler]
|
|
|
|
172 / 7739
|
|
4
|
(HPO:0002901)
|
Hypocalcemia |
|
|
|
|
56 / 7739
|
|
5
|
(HPO:0002905)
|
Hyperphosphatemia |
|
|
|
|
18 / 7739
|
|
6
|
(HPO:0003165)
|
Elevated circulating parathyroid hormone level |
|
|
|
|
17 / 7739
|
|
7
|
(HPO:0003456)
|
Low urinary cyclic AMP response to PTH administration |
|
|
|
|
4 / 7739
|
|
8
|
(HPO:0010049)
|
Short metacarpal |
rare [HPO:skoehler]
|
|
|
|
99 / 7739
|
|
9
|
(OMIM)
|
Osteitis fibrosa cystica due to elevated parathyroid hormone (PTH) (subset of patients) |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Renal resistance to PTH |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Normal erythrocyte Gs activity |
|
|
|
|
2 / 7739
|
|
12
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
13
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|