Mucolipidosis
cv_term_accession
KW-0942
canonical
uniprot_keyword
KW-0942
canonical
name
Mucolipidosis
uniprot
definition
Protein which, if defective, causes mucolipidosis, a group of inherited metabolic diseases characterised by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. Mental retardation and skeletal changes are common. All mucolipidosis are lysosomal disorders and are inherited in an autosomal recessive manner.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords