|
1
|
(HPO:0000818)
|
Abnormality of the endocrine system |
|
|
|
|
26 / 7739
|
|
2
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
3
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
4
|
(OMIM)
|
Short stature from birth |
|
|
|
|
1 / 7739
|
|
5
|
(OMIM)
|
No growth response to exogenous growth hormone (GH, 139250) |
|
|
|
|
1 / 7739
|
|
6
|
(OMIM)
|
Decreased serum insulin-like growth factor 1 (IGF1) |
|
|
|
|
3 / 7739
|
|
7
|
(OMIM)
|
Decreased secretion of IGF1 in response to GH administration |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Decreased number of IGF1 receptors (IGF1R, 147370) on cell surface |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Abnormal IGFR1 function |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
11
|
(HPO:0001426)
|
Multifactorial inheritance |
|
|
|
|
37 / 7739
|