| 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 |
SNOMEDCT_US_2023_03_01:378007 |
| 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 |