has material basis in germline mutation in disease has feature HPRT1 Self-injurious behavior syndromic disease Lesch-Nyhan syndrome https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/lesch_nyhan_syndrome Orphanet:510 Lesch Nyhan Syndrome Lesch-Nyhan syndrome NORD:1365 Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems. MedDRA:10057589 SCTID:10406007 HPRT deficiency, complete hypoxanthine guanine phosphoribosyltransferase 1 deficiency MEDGEN:9721 GARD:0007226 HPRT complete deficiency hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV DOID:1919 hypoxanthine guanine phospho-ribosyltransferase 1 deficiency ICD10CM:E79.1 icd11.foundation:1886495906 HPRT deficiency UMLS:C0023374 Lesch-Nyhan syndrome, X-linked recessive HPRT deficiency grade IV deficiency of IMP pyrophosphorylase NANDO:2200586 X-linked hyperuricemia (disorder) [ambiguous] MONDO:0010298 MESH:D007926 hypoxanthine guanine phosphoribosyltransferase complete deficiency Lesch Nyhan syndrome HPRT deficiency, neurologic variant hypoxanthine-guanine-phosphoribosyltransferase deficiency (& [Lesch - Nyhan syndrome]) Lesch Nyhan disease ICD9:277.2 complete hypoxanthine-guanine phosphoribosyltransferase deficiency X-linked hyperuricemia LNS OMIM:300322 NCIT:C61255 Hprt1 deficiency Lesch-Nyhan syndrome, neurologic variant hypoxanthine-guanine phosphoribosyltransferase deficiency