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mucopolysaccharidosis type 3A

Go to external page http://purl.obolibrary.org/obo/MONDO_0009655

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 ]

Synonyms: MPS III A mucopolysaccharidosis type IIIA (Sanfilippo A) mucopolysaccharidosis type IIIA Sanfilippo syndrome type A heparan sulfamidase deficiency Sanfilippo syndrome a Sanfilippo A MPS3A mucopolysaccharidosis type 3A MPSIIIA

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:252900 (Orphanet:79269/e)
  • GARD:7071 (Orphanet:79269)
  • SCTID:41572006 (MONDO:equivalentTo)
  • DOID:0111395 (MONDO:equivalentTo)
  • Orphanet:79269 (OMIM:252900)
  • NCIT:C84897 (MONDO:equivalentTo)
  • UMLS:C0086647 (Orphanet:79269)
Subsets

gard_rare, rare, nord_rare, orphanet_rare, clingen, ordo_etiological_subtype

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

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

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

exactMatch

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

http://identifiers.org/snomedct/41572006

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

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

https://omim.org/entry/252900

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

has related synonym

mucopoly-saccharidosis type 3A

heparan sulphate sulfatase deficiency

mucopolysaccharidosis, type IIIA

heparane sulfamidase deficiency

MPS IIIA

MPS 3A

heparan sulfate sulfatase deficiency

sulfamidase deficiency

mucopolysaccharidosis, type 3A

id

MONDO:0009655

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0009655