1
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
2
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
3
|
(HPO:0002027)
|
Abdominal pain |
|
|
|
|
184 / 7739
|
4
|
(HPO:0004387)
|
Enterocolitis |
|
|
|
|
7 / 7739
|
5
|
(OMIM)
|
Calcium oxalate/carbonate urolithiasis |
|
|
|
|
1 / 7739
|
6
|
(OMIM)
|
Excessive urinary 5-oxo-L-proline |
|
|
|
|
1 / 7739
|
7
|
(OMIM)
|
5-oxoprolinase deficiency |
|
|
|
|
1 / 7739
|
8
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
9
|
(HPO:0003137)
|
Prolinuria |
|
|
|
|
4 / 7739
|
10
|
(HPO:0008672)
|
Calcium oxalate nephrolithiasis |
|
|
|
|
10 / 7739
|
11
|
(HPO:0040142)
|
5-oxoprolinase deficiency |
|
|
|
|
1 / 7739
|