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. [ Orphanet:93474 ]

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C0026708 (OMIM:607016)
  • ICD10:E76.0 (Orphanet:93474)
  • DOID:0060222 (MONDO:equivalentTo)
  • NCIT:C61265 (MONDO:equivalentTo)
  • GARD:0012561 (MONDO:equivalentTo)
  • OMIM:607016 (Orphanet:93474)
  • Orphanet:93474 (OMIM:607016)
Subsets

gard_rare, ordo_clinical_subtype

abbreviation
MPSIS [ Orphanet:93474 ]

abbreviation
MPS1S [ Orphanet:93474 ]

definition

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.

exactMatch

http://identifiers.org/omim/607016

http://linkedlifedata.com/resource/umls/id/C0026708

http://purl.obolibrary.org/obo/DOID_0060222

http://purl.obolibrary.org/obo/NCIT_C61265

http://www.orpha.net/ORDO/Orphanet_93474

has exact synonym

MPS1S

mucopolysaccharidosis type IS

MPS I S

MPSIS

Scheie syndrome

mucopolysaccharidosis type 1S

mucopolysaccharidosis type V

has related synonym

MPS V

MPS1-S

MPS V, formerly

MPS5, formerly

mucopolysaccharidosis Is

mucopolysaccharidosis type V, formerly

id

MONDO:0011760

seeAlso

https://rarediseases.info.nih.gov/diseases/12561/scheie-syndrome