- Concept UI
- M0013006
- Scope Note
- An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder.
- Terms
-
alpha-Mannosidosis
Preferred Term
Term UI
T534637
Date03/06/2003
LexicalTag
NON
ThesaurusID
-
alpha Mannosidase B Deficiency
Term UI
T751402
Date05/18/2009
LexicalTag
NON
ThesaurusID
-
Alpha-Mannosidase B Deficiency
Term UI
T811735
Date11/15/2011
LexicalTag
NON
ThesaurusID
-
alpha-Mannosidase Deficiency
Term UI
T534705
Date03/07/2003
LexicalTag
NON
ThesaurusID
-
Alpha-Mannosidosis, Type I
Term UI
T811736
Date11/15/2011
LexicalTag
NON
ThesaurusID
OMIM (2013)
-
Lysosomal alpha-D-Mannosidase Deficiency
Term UI
T751403
Date05/18/2009
LexicalTag
NON
ThesaurusID
-
Mannosidosis, alpha B Lysosomal
Term UI
T751318
Date05/15/2009
LexicalTag
NON
ThesaurusID
-
Mannosidosis, alpha B, Lysosomal
Term UI
T534621
Date03/06/2003
LexicalTag
NON
ThesaurusID
-
Alpha-D-Mannosidosis
Term UI
T840864
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)
-
Lysosomal Alpha B Mannosidosis
Term UI
T840865
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)