Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy. [ Orphanet:93473 ]

This is just here as a test because I lose it

Term information

database cross reference
  • ICD10:E76.0 (Orphanet:93473)
  • DOID:0111390 (MONDO:equivalentTo)
  • NCIT:C61261 (MONDO:equivalentTo)
  • GARD:0012559 (Orphanet-shared)
  • OMIM:607014 (Orphanet:93473)
  • Orphanet:93473 (OMIM:607014)
Subsets

ordo_clinical_subtype

abbreviation
MPSIH [ Orphanet:93473 ]

abbreviation
MPS1H [ Orphanet:93473 ]

closeMatch

http://linkedlifedata.com/resource/umls/id/C0086795

definition

Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C61261

http://purl.obolibrary.org/obo/DOID_0111390

http://identifiers.org/omim/607014

http://www.orpha.net/ORDO/Orphanet_93473

has exact synonym

Hurler syndrome

Hurler disease

MPS1H

MPS I H

mucopolysaccharidosis type 1H

MPSIH

mucopolysaccharidosis type IH

has related synonym

mucopolysaccharidosis IH

MPS1-H

id

MONDO:0011758