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mucopolysaccharidosis type 3

Go to external page http://purl.obolibrary.org/obo/MONDO_0018937

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

Synonyms: Sanfilippo disease heparan sulphate sulfatase deficiency mucopolysaccharidosis type III MPS3 mucopolysaccharidosis type 3 N-sulphoglucosamine sulphohydrolase deficiency MPSIII Sanfilippo's syndrome Sanfilippo syndrome mucopolysaccharidosis, MPS-III heparan sulfate sulfatase deficiency

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:12801 (MONDO:equivalentTo)
  • GARD:3807 (Orphanet:581)
  • NORD:1463 (MONDO:NORD)
  • SCTID:88393000 (MONDO:equivalentTo)
  • NCIT:C61262 (MONDO:equivalentTo)
  • UMLS:C0026706 (Orphanet:581/e)
  • Orphanet:581 (MONDO:equivalentTo)
  • MedDRA:10056890 (Orphanet:581/e)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

closeMatch

http://identifiers.org/meddra/10056890

exactMatch

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

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

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

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0018937