Disease Term Disease ID Gene Symbol References
Adenylosuccinate lyase deficiency (disorder) C0268126 ADSL 20175147, 27504266, 20933180, 10090474, 10888601, 9545543, 10958654, 23504561, 19405474, 17188615, 25112391, 22180458, 20127976, 18524658, 1302001, 12833398, 12368987, 22812634, 9266401, 21210713, 16839792, 23714113
Adenylosuccinate lyase deficiency type 1 C4721811 ADSL 12833398, 10888601, 10958654
Adenylosuccinate lyase deficiency type 4 C4721812 ADSL 10888601, 12833398, 10958654
Adenylosuccinate lyase deficiency type 3 C4721813 ADSL 10888601, 12833398, 10958654
Adenylosuccinate lyase deficiency type 2 C4721814 ADSL 10958654, 12833398, 10888601
Adenylosuccinate lyase deficiency 46 ADSL