A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature. [ NCIT:C84902 ]

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:253010 (Orphanet:309310)
  • NCIT:C84902 (MONDO:equivalentTo)
  • SCTID:238044004 (MONDO:equivalentTo)
  • DOID:0111392 (MONDO:equivalentTo)
  • UMLS:C0086652 (Orphanet:309310)
  • GARD:0003786 (OMIM-shared)
  • Orphanet:309310 (OMIM:253010)
  • ICD10:E76.2 (Orphanet:309310)
Subsets

ordo_clinical_subtype

abbreviation
MPS4B [ Orphanet:309310 ]

abbreviation
MPSIVB [ Orphanet:309310 ]

definition

A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature.

exactMatch

http://linkedlifedata.com/resource/umls/id/C0086652

http://purl.obolibrary.org/obo/DOID_0111392

http://purl.obolibrary.org/obo/NCIT_C84902

http://www.orpha.net/ORDO/Orphanet_309310

http://identifiers.org/snomedct/238044004

http://identifiers.org/omim/253010

has exact synonym

mucopolysaccharidosis type IVB

Morquio syndrome B

MPSIVB

Morquio disease type B

Beta-D-galactosidase deficiency

MPS IV B

MPS4B

MPS 4B

has related synonym

MPS IVB

mucopolysaccharidosis, type IVB

mucopolysaccharidosis, type 4B

id

MONDO:0009660