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Sanfilippo syndrome type D

Go to external page http://purl.obolibrary.org/obo/MONDO_0009658

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 ]

Synonyms: MPS3D GNS deficiency mucopolysaccharidosis type IIID Sanfilippo syndrome type D MPS III D Sanfilippo D glucosamine N-acetyl-6-sulfatase deficiency MPSIIID mucopolysaccharidosis type 3D Sanfilippo syndrome D

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:79272 (OMIM:252940)
  • UMLS:C0086650 (Orphanet:79272)
  • OMIM:252940 (Orphanet:79272/e)
  • GARD:7074 (Orphanet:79272)
  • SCTID:15892005 (MONDO:equivalentTo)
  • DOID:0111402 (MONDO:equivalentTo)
  • NCIT:C84900 (MONDO:equivalentTo)
Subsets

gard_rare, rare, nord_rare, orphanet_rare, clingen, ordo_etiological_subtype

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4948

https://github.com/monarch-initiative/mondo/issues/5075

exactMatch

http://identifiers.org/snomedct/15892005

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

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

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

https://omim.org/entry/252940

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

has related synonym

MPS 3D

mucopolysaccharidosis, type IIID

N-acetylglucosamine-6-sulfate sulfatase deficiency

Mucopoly-saccharidosis type 3D

mucopolysaccharidosis, type 3D

N-acetylglucosamine-6-sulfatase deficiency

MPS IIID

id

MONDO:0009658

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0009658