The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome). [ NCIT:P378 ]

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:0010335 (Orphanet-shared)
  • NCIT:C85053 (MONDO:equivalentTo)
  • Orphanet:579 (MONDO:equivalentTo)
  • DOID:12802 (MONDO:equivalentTo)
  • SCTID:75610003 (MONDO:equivalentTo)
  • MedDRA:10056886 (Orphanet:579)
  • ICD10:E76.0 (Orphanet:579)
Subsets

ordo_disease

abbreviation
MPSI [ Orphanet:579 ]

abbreviation
MPS1 [ Orphanet:579 ]

closeMatch

http://identifiers.org/snomedct/190938004

http://identifiers.org/snomedct/267453008

definition

The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome).

exactMatch

http://purl.obolibrary.org/obo/NCIT_C85053

http://www.orpha.net/ORDO/Orphanet_579

http://identifiers.org/snomedct/75610003

http://purl.obolibrary.org/obo/DOID_12802

http://linkedlifedata.com/resource/umls/id/C2713321

http://identifiers.org/mesh/D008059

http://identifiers.org/meddra/10056886

http://linkedlifedata.com/resource/umls/id/C0023786

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0020186

has exact synonym

lipochondrodystrophy

Alpha-L-iduronidase deficiency

Hurler syndrome

MPS I - Hurler syndrome

MPS1

mucopolysaccharidosis, type 1

iduronidase deficiency disease

mucopolysaccharidosis type 1

MPSI

mucopolysaccharidosis, MPS-I

mucopolysaccharidosis type I

has related synonym

Scheie syndrome (subtype) formerly known as Mucopoly-saccharidosis type V)

mucopolysaccharidosis I

MPS 1

Hurler syndrome (subtype)

IDUA deficiency

attenuated MPS I (subtype, includes Hurler-Scheie and Scheie syndrome)

Hurler-Scheie syndrome (subtype)

MPS I

severe MPS I (subtype, also known as Hurler syndrome)

id

MONDO:0001586