A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme acetyl-CoA:alpha-glucosaminide acetyltransferase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays. [ NCIT:C84899 ]

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:79271 (OMIM:252930)
  • NCIT:C84899 (MONDO:equivalentTo)
  • OMIM:252930 (Orphanet:79271)
  • UMLS:C0086649 (Orphanet:79271)
  • GARD:0007073 (Orphanet-shared)
  • ICD10:E76.2 (Orphanet:79271)
  • DOID:0111393 (MONDO:equivalentTo)
  • SCTID:75238000 (MONDO:equivalentTo)
Subsets

ordo_etiological_subtype

abbreviation
MPS3C [ https://omim.org/entry/252930 MONDO:Lexical Orphanet:79271 ]

abbreviation
MPSIIIC [ Orphanet:79271 ]

definition

A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme acetyl-CoA:alpha-glucosaminide acetyltransferase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays.

exactMatch

http://purl.obolibrary.org/obo/DOID_0111393

http://purl.obolibrary.org/obo/NCIT_C84899

http://identifiers.org/omim/252930

http://linkedlifedata.com/resource/umls/id/C0086649

http://www.orpha.net/ORDO/Orphanet_79271

http://identifiers.org/snomedct/75238000

has exact synonym

MPS3C

mucopolysaccharidosis type IIIC

MPS III C

heparan-alpha-glucosaminide N-acetyltransferase deficiency

HGSNAT deficiency

Sanfilippo C

MPSIIIC

mucopolysaccharidosis type 3C

has related synonym

Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency

MPS 3C

Mucopoly-saccharidosis type 3C

acetyl-CoA:alpha-glucosaminide N-acetyltransferase deficiency

mucopolysaccharidosis, type IIIC

mucopolysaccharidosis, type 3C

MPS IIIC

Sanfilippo syndrome C

id

MONDO:0009657