| Hyperphenylalaninaemia |
C0751435 |
GCH1
|
|
|
PAH
|
8533759, 17935162, 19292873, 10479481, 26666653, 12501224, 9298832, 23500595, 23764561, 16198137, 9634518, 26503515, 23430547, 21147011, 18299955, 23792259, 17096675, 25596310, 8659548, 24368688, 24350308, 24401910, 18294361, 23357515, 22698810 |
|
PCBD1
|
|
|
PTS
|
|
|
QDPR
|
25526675 |
| Hyperphenylalaninemia, BH4-Deficient, B |
C0268467 |
GCH1
|
27830117, 8619546, 11486899, 27604308, 20842687, 7501255, 10496263, 17101830, 20082337, 15753436, 9667588, 17898029, 27246466, 15303002, 21935284, 16917893, 20491893, 7874165, 23211702, 18276179, 9749603, 19332422, 8852666, 19491146, 20108370, 10457396, 10984670 |
| Hyperphenylalaninemia, Non-Phenylketonuric |
C0751436 |
PAH
|
|
|
QDPR
|
25526675 |
| Hyperphenylalaninemia, Non-Pku Mild |
C2678416 |
PAH
|
|
| Hyperphenylalaninemia with primapterinuria |
C1849700 |
PCBD1
|
24204001, 9760199, 8352282, 24848070, 27604308, 8618906, 9585615, 27246466, 25333069 |
| Mild hyperphenylalaninemia |
79651 |
PAH
|
|
| Hyperphenylalaninemia due to DNAJC12 deficiency |
508523 |
DNAJC12
|
|
| HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT |
C4479270 |
DNAJC12
|
28132689 |
| Pterin-4 alpha-carbinolamine dehydratase deficiency |
1578 |
PCBD1
|
|
