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. [ Orphanet:93476 ]

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0111389 (MONDO:equivalentTo)
  • OMIM:607015 (Orphanet:93476)
  • MedDRA:10056916 (Orphanet:93476)
  • ICD10:E76.0 (Orphanet:93476)
  • SCTID:73123008 (MONDO:equivalentTo)
  • Orphanet:93476 (OMIM:607015)
  • UMLS:C0086431 (Orphanet:93476)
  • GARD:0012560 (Orphanet-shared)
  • NCIT:C122782 (MONDO:equivalentTo)
Subsets

ordo_clinical_subtype

definition

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.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C122782

http://identifiers.org/meddra/10056916

http://identifiers.org/omim/607015

http://linkedlifedata.com/resource/umls/id/C0086431

http://identifiers.org/snomedct/73123008

http://purl.obolibrary.org/obo/DOID_0111389

http://www.orpha.net/ORDO/Orphanet_93476

has exact synonym

mucopolysaccharidosis type 1H/S

MPSIH/S

mucopolysaccharidosis, mps-I-s

MPS1H/S

Hurler-Scheie syndrome

mucopolysaccharidosis type IH/S

MPS I H-S

has related synonym

mucopolysaccharidosis IH/S

Scheie disease mps type 1s

Hurler–Scheie syndrome

mucopolysaccharidosis type I mild form

Scheie's syndrome

l-iduronidase deficiency, Scheie type

MPS1-HS

mucopolysaccharidosis type I-S

mucopolysaccharidosis type Ih/S

id

MONDO:0011759