A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays. [ NCIT:C84900 ]

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:0007074 (Orphanet-shared)
  • NCIT:C84900 (MONDO:equivalentTo)
  • ICD10:E76.2 (Orphanet:79272)
  • Orphanet:79272 (OMIM:252940)
  • DOID:0111402 (MONDO:equivalentTo)
  • UMLS:C0086650 (Orphanet:79272)
  • OMIM:252940 (Orphanet:79272)
  • SCTID:15892005 (MONDO:equivalentTo)
Subsets

ordo_etiological_subtype

abbreviation
MPSIIID [ Orphanet:79272 ]

abbreviation
MPS3D [ https://omim.org/entry/252940 MONDO:Lexical Orphanet:79272 ]

definition

A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays.

exactMatch

http://identifiers.org/snomedct/15892005

http://purl.obolibrary.org/obo/NCIT_C84900

http://linkedlifedata.com/resource/umls/id/C0086650

http://identifiers.org/omim/252940

http://www.orpha.net/ORDO/Orphanet_79272

http://purl.obolibrary.org/obo/DOID_0111402

has exact synonym

MPS3D

GNS deficiency

MPS III D

mucopolysaccharidosis type IIID

Sanfilippo D

glucosamine N-acetyl-6-sulfatase deficiency

MPSIIID

mucopolysaccharidosis type 3D

has related synonym

MPS 3D

mucopolysaccharidosis, type IIID

N-acetylglucosamine-6-sulfate sulfatase deficiency

Mucopoly-saccharidosis type 3D

Sanfilippo syndrome D

mucopolysaccharidosis, type 3D

N-acetylglucosamine-6-sulfatase deficiency

MPS IIID

id

MONDO:0009658