- Concept UI
- M0446530
- Scope Note
- An inborn error of metabolism marked by a defect in the lysosomal isoform of BETA-MANNOSIDASE that results in lysosomal accumulation of mannose-rich intermediate metabolites containing 1,4-beta linkages. The human disease occurs through autosomal recessive inheritance and manifests in the form of a variety of symptoms that depend upon the type of gene mutation.
- Terms
-
beta-Mannosidosis
Preferred Term
Term UI
T534712
Date03/07/2003
LexicalTag
NON
ThesaurusID
-
Lysosomal beta-Mannosidase Deficiency
Term UI
T000892545
Date12/23/2015
LexicalTag
NON
ThesaurusID
-
Mannosidosis, beta A, Lysosomal
Term UI
T534710
Date03/07/2003
LexicalTag
NON
ThesaurusID
-
beta-Mannosidase Deficiency
Term UI
T534711
Date03/07/2003
LexicalTag
NON
ThesaurusID
-
Lysosomal beta A Mannosidosis
Term UI
T843577
Date05/03/2013
LexicalTag
NON
ThesaurusID
GHR (2014)