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mucopolysaccharidosis type 4A

Go to external page http://purl.obolibrary.org/obo/MONDO_0009659

A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits. [ NCIT:C84901 ]

Synonyms: mucopolysaccharidosis type IVA mucopolysaccharidosis type 4A Morquio syndrome A mucopolysaccharidosis IVA MPSIVA GALNS deficiency galactosamine-6-sulfatase deficiency MPS IV A Morquio disease type A N-acetylgalactosamine-6-sulfate sulfatase deficiency MPS4A

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:253000 (Orphanet:309297/e)
  • SCTID:7259005 (MONDO:equivalentTo)
  • Orphanet:309297 (OMIM:253000)
  • GARD:3785 (Orphanet:309297)
  • DOID:0111391 (MONDO:equivalentTo)
  • NCIT:C84901 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_clinical_subtype, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

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

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

exactMatch

https://omim.org/entry/253000

http://purl.obolibrary.org/obo/DOID_0111391

http://www.orpha.net/ORDO/Orphanet_309297

http://purl.obolibrary.org/obo/NCIT_C84901

http://identifiers.org/snomedct/7259005

has broad synonym

Morquio A disease

has related synonym

MPS IVA

mucopolysaccharidosis, type IVA

mucopolysaccharidosis, type 4A

MPS 4A

id

MONDO:0009659

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0009659