Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterised by severe and rapid intellectual deterioration. [ Orphanet:581 ]

This is just here as a test because I lose it

Term information

database cross reference
  • ICD10:E76.2 (Orphanet:581)
  • ICD10:E76.22 (DOID:12801)
  • UMLS:CN205330 (MONDO:equivalentTo)
  • MedDRA:10056890 (Orphanet:581)
  • SCTID:88393000 (MONDO:equivalentTo)
  • NCIT:C61262 (MONDO:equivalentTo)
  • Orphanet:581 (MONDO:equivalentTo)
  • GARD:0003807 (Orphanet-shared)
  • UMLS:C0026706 (Orphanet:581)
  • DOID:12801 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
MPS3 [ Orphanet:581 ]

abbreviation
MPSIII [ Orphanet:581 ]

closeMatch

http://identifiers.org/snomedct/254070003

http://identifiers.org/snomedct/254071004

http://identifiers.org/snomedct/190936000

definition

Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterised by severe and rapid intellectual deterioration.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C61262

http://identifiers.org/meddra/10056890

http://identifiers.org/snomedct/88393000

http://linkedlifedata.com/resource/umls/id/C0026706

http://purl.obolibrary.org/obo/DOID_12801

http://www.orpha.net/ORDO/Orphanet_581

http://identifiers.org/mesh/D009084

http://linkedlifedata.com/resource/umls/id/CN205330

has exact synonym

Sanfilippo disease

mucopolysaccharidosis type III

MPS3

N-sulphoglucosamine sulphohydrolase deficiency

MPSIII

Sanfilippo's syndrome

mucopolysaccharidosis, MPS-III

Sanfilippo syndrome

heparan sulfate sulfatase deficiency

has narrow synonym

mucopolysaccharidosis type IIIA

MPS IIIB - Sanfilippo syndrome B

mucopolysaccharidosis type IIIB

MPS IIIA - Sanfilippo syndrome A

NAGLU deficiency

MPS IIID - Sanfilippo syndrome D

MPS IIIC - Sanfilippo syndrome C

Sanfilippo syndrome A

N-acetyl-alpha-D-glucosaminidase deficiency

mucopolysaccharidosis, MPS-III-B

Sanfilippo syndrome B

has related synonym

mucopolysaccharidosis III

Mucopoly-saccharidosis type 3

id

MONDO:0018937