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Metadata
DOID 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, http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002186/
Xrefs

CSP2005:1849-6163

ICD10CM:E76.210

ICD10CM:E76.219

MESH:D009085

NCI:C61263

NCI:C84901

OMIM:253000

OMIM:253010

SNOMEDCT_US_2018_03_01:378007

SNOMEDCT_US_2018_03_01:7259005

SNOMEDCT_US_2018_03_01:78856008

UMLS_CUI:C0026707

UMLS_CUI:C0086651

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]

Morquio A disease [NARROW]

Morquio syndrome A [NARROW]

MPS IV - Morquio syndrome A [NARROW]

MPS IV - Morquio syndrome B [NARROW]

mucopolysaccharidosis type IVA [NARROW]

Mucopolysaccharidosis type IVB [NARROW]

Mucopolysaccharidosis, MPS-IV [EXACT]

Mucopolysaccharidosis, MPS-IV-A [NARROW]

Osteochondrodystrophy [NARROW]

Relationships

is_a mucopolysaccharidosis

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