Disease Term Disease ID Gene Symbol References
Lesch-Nyhan Syndrome C0023374, 510 HPRT1 2347587, 9452051, 2572141, 3029599, 2928313, 2358296, 7627191, 3384338, 3265398, 8664901, 9288634, 15571223, 2246854, 28045594, 2071157, 24940672, 17027311, 24206569, 28495876, 20544509, 11018746, 27604308, 20176575, 2323782, 1934271, 6853716, 27079129, 2910902, 22132984
Lesch-Nyhan Syndrome, Neurologic Variant C1845892 HPRT1