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 ]

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:0003785 (Orphanet-shared)
  • OMIM:253000 (Orphanet:309297)
  • NCIT:C84901 (MONDO:equivalentTo)
  • Orphanet:309297 (OMIM:253000)
  • SCTID:7259005 (MONDO:equivalentTo)
  • ICD10:E76.2 (Orphanet:309297)
  • DOID:0111391 (MONDO:equivalentTo)
Subsets

ordo_clinical_subtype

abbreviation
MPSIVA [ Orphanet:309297 ]

abbreviation
MPS4A [ Orphanet:309297 MONDO:Lexical https://omim.org/entry/253000 ]

closeMatch

http://linkedlifedata.com/resource/umls/id/C3179194

http://linkedlifedata.com/resource/umls/id/C0086651

definition

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.

exactMatch

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

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

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

http://identifiers.org/omim/253000

http://identifiers.org/snomedct/7259005

has broad synonym

Morquio A disease

has exact synonym

mucopolysaccharidosis type IVA

Morquio syndrome A

MPSIVA

GALNS deficiency

galactosamine-6-sulfatase deficiency

MPS IV A

Morquio disease type A

MPS4A

N-acetylgalactosamine-6-sulfate sulfatase deficiency

has related synonym

MPS IVA

mucopolysaccharidosis, type IVA

mucopolysaccharidosis, type 4A

MPS 4A

id

MONDO:0009659