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: Mucopolysaccharidosis Type III heparan sulphate sulfatase deficiency Sanfilippo disease mucopolysaccharidosis type III MPS3 N-sulphoglucosamine sulphohydrolase deficiency MPSIII Sanfilippo's syndrome mucopolysaccharidosis, MPS-III Sanfilippo syndrome heparan sulfate sulfatase deficiency
Term information
- UMLS:C0026706 (MONDO:equivalentTo)
- NANDO:2200549 (https://orcid.org/0000-0003-0011-764X)
- MEDGEN:6452 (MONDO:equivalentTo)
- SCTID:88393000 (MONDO:equivalentTo)
- GARD:3807 (MONDO:GARD)
- Orphanet:581 (MONDO:equivalentTo)
- NANDO:1200100 (https://orcid.org/0000-0003-0011-764X)
- NORD:1463 (MONDO:NORD)
- NCIT:C61262 (MONDO:equivalentTo)
- MedDRA:10056890 (Orphanet:581/e)
- DOID:12801 (MONDO:equivalentTo)
gard_rare, ordo_disorder, otar, rare, nord_rare, orphanet_rare, clingen
http://purl.obolibrary.org/obo/NCIT_C61262
http://identifiers.org/snomedct/88393000
http://identifiers.org/medgen/6452
http://linkedlifedata.com/resource/umls/id/C0026706
http://purl.obolibrary.org/obo/DOID_12801
http://www.orpha.net/ORDO/Orphanet_581
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