loading...| Preferred Name | mucopolysaccharidosis IV | |
| Synonyms |
chondroosteodystrophy Osteochondrodystrophy deficiency of chondroitinsulphatase Mucopolysaccharidosis, MPS-IV galactosamine-6-sulfatase deficiency deficiency of N-acetylgalactosamine-6-sulphatase |
|
| Definitions |
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. OMIM mapping confirmed by DO. [SN]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_12804 |
|
| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| alternative label |
chondroosteodystrophy Osteochondrodystrophy deficiency of chondroitinsulphatase Mucopolysaccharidosis, MPS-IV galactosamine-6-sulfatase deficiency deficiency of N-acetylgalactosamine-6-sulphatase |
|
| database_cross_reference |
SNOMEDCT_US_2023_03_01:378007 UMLS_CUI:C0026707 ICD10CM:E76.219 MESH:D009085 NCI:C61263 |
|
| 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. OMIM mapping confirmed by DO. [SN]. |
|
| has exact synonym |
deficiency of chondroitinsulphatase Mucopolysaccharidosis, MPS-IV galactosamine-6-sulfatase deficiency deficiency of N-acetylgalactosamine-6-sulphatase |
|
| has_alternative_id |
DOID:0050808 DOID:14767 |
|
| has_narrow_synonym |
chondroosteodystrophy Osteochondrodystrophy |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:12804 |
|
| in_subset | ||
| label |
mucopolysaccharidosis IV |
|
| notation |
DOID:12804 |
|
| note |
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. OMIM mapping confirmed by DO. [SN]. |
|
| preferred label |
mucopolysaccharidosis IV |
|
| prefLabel |
mucopolysaccharidosis IV |
|
| subClassOf |