has material basis in germline mutation in IDUA mucopolysaccharidosis type 1 syndromic disease Scheie syndrome https://github.com/monarch-initiative/mondo/issues/4948 https://rarediseases.info.nih.gov/diseases/12561/scheie-syndrome NCIT:C61265 MPS1S mucopolysaccharidosis type 1S DOID:0060222 OMIM:607016 mucopolysaccharidosis Is Orphanet:93474 mucopolysaccharidosis type IS GARD:0012561 UMLS:C0026708 MPS5, formerly SCTID:73123008 MONDO:0011760 MPSIS NANDO:1200095 NANDO:2201169 Scheie syndrome Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development. MEDGEN:6453 MPS1-S MPS I S lysosomal storage disease with skeletal involvement