has material basis in germline mutation in IDUA mucopolysaccharidosis type 1 syndromic disease Hurler-Scheie syndrome https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/9097 https://www.malacards.org/card/hurler_scheie_syndrome mucopolysaccharidosis type 1H/S NANDO:1200096 SCTID:26745009 Hurler–Scheie syndrome MPS I H-S MPS1-HS MPSIH/S UMLS:C0086431 Orphanet:93476 NANDO:2201170 mucopolysaccharidosis, mps-I-s MEDGEN:88566 DOID:0111389 MedDRA:10056916 ICD10CM:E76.02 Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development. OMIM:607015 GARD:0012560 NCIT:C122782 MONDO:0011759 MPS1H/S mucopolysaccharidosis type IH/S Hurler-Scheie syndrome mucopolysaccharidosis IH/S Scheie syndrome lysosomal storage disease with skeletal involvement