Kw 0510
cv_term_accession
KW-0510
canonical
uniprot_keyword
KW-0510
canonical
name
Mucopolysaccharidosis
uniprot
definition
Protein which, if defective, causes mucopolysaccharidosis. These inherited diseases are characterized by excessive accumulation and secretion of oligomucopoloysaccharide due to the deficiency of enzymes involved in the degradation of glycosaminoglycans (mucopolysaccharides). They are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords