A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures. [ NCIT:C84897 ]

This is just here as a test because I lose it

Term information

database cross reference
  • NCIT:C84897 (MONDO:equivalentTo)
  • ICD10:E76.2 (Orphanet:79269)
  • OMIM:252900 (Orphanet:79269)
  • SCTID:41572006 (MONDO:equivalentTo)
  • GARD:0002649 (MONDO:equivalentTo)
  • UMLS:C0086647 (Orphanet:79269)
  • DOID:0111395 (MONDO:equivalentTo)
  • GARD:0007071 (Orphanet-shared)
  • Orphanet:79269 (OMIM:252900)
Subsets

gard_rare, ordo_etiological_subtype

abbreviation
MPSIIIA [ Orphanet:79269 ]

abbreviation
MPS3A [ Orphanet:79269 https://omim.org/entry/252900 MONDO:Lexical ]

closeMatch

http://linkedlifedata.com/resource/umls/id/C1420015

definition

A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures.

exactMatch

http://www.orpha.net/ORDO/Orphanet_79269

http://identifiers.org/snomedct/41572006

http://identifiers.org/omim/252900

http://purl.obolibrary.org/obo/DOID_0111395

http://purl.obolibrary.org/obo/NCIT_C84897

http://linkedlifedata.com/resource/umls/id/C0086647

has exact synonym

mucopolysaccharidosis type IIIA

MPS III A

heparan sulfamidase deficiency

Sanfilippo A

MPS3A

mucopolysaccharidosis type 3A

MPSIIIA

has related synonym

mucopoly-saccharidosis type 3A

mucopolysaccharidosis, type IIIA

heparane sulfamidase deficiency

Sanfilippo syndrome a

MPS 3A

MPS IIIA

heparan sulfate sulfatase deficiency

sulfamidase deficiency

mucopolysaccharidosis, type 3A

id

MONDO:0009655