Visualize Submit Comment
Metadata
ID DOID:12804
Name mucopolysaccharidosis IV
Definition A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain.
http://en.wikipedia.org/wiki/Morquio_syndrome
Xrefs

ICD10CM:E76.219

MESH:D009085

NCI:C61263

SNOMEDCT_US_2020_09_01:378007

UMLS_CUI:C0026707

Alternateids

DOID:0050808

DOID:14767

Subsets

NCIthesaurus

Synonyms

chondroosteodystrophy [NARROW]

deficiency of chondroitinsulphatase [EXACT]

deficiency of N-acetylgalactosamine-6-sulphatase [EXACT]

galactosamine-6-sulfatase deficiency [EXACT]

Mucopolysaccharidosis, MPS-IV [EXACT]

Osteochondrodystrophy [NARROW]

Parent Relationships

is_a mucopolysaccharidosis

Add an item to the term tracker