Preferred Label : beta-Mannosidosis;
MeSH definition : 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 itself with variety of symptoms that depend upon the type of gene mutation.; 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.; 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.;
MeSH synonym : beta-mannosidoses; beta mannosidase deficiency; beta-mannosidase deficiency; beta-mannosidase deficiencies; mannosidosis, beta A, lysosomal; beta mannosidosis; lysosomal beta A mannosidosis; Lysosomal beta-Mannosidase Deficiency; Lysosomal beta Mannosidase Deficiency; Lysosomal beta-Mannosidase Deficiencies;
CISMeF synonym : deficiency, beta-mannosidase;
False MeSH synonym : mannosidosis, beta a, lysosomal;
Origin ID : D044905;
UMLS CUI : C4048196;
Allowable qualifiers
- Currated CISMeF NLP mapping
- DO Cross reference
- Has phenotype(s) (HPO)
- Manual NTBT mappings (CISMeF)
- ORDO relation(s)
- Record concept(s)
- See also
- Semantic type(s)
- UMLS correspondences (same concept)
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 itself with variety of symptoms that depend upon the type of gene mutation.
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.
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.
