| Descriptor English: | beta-Mannosidosis | ||||||
| Descriptor Spanish: |
beta-Manosidosis
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| Descriptor Portuguese: | beta-Manosidose | ||||||
| Descriptor French: | bêta-Mannosidose | ||||||
| Entry term(s): |
Lysosomal beta A Mannosidosis Lysosomal beta Mannosidase Deficiency Lysosomal beta-Mannosidase Deficiencies Lysosomal beta-Mannosidase Deficiency Mannosidosis, beta A, Lysosomal beta Mannosidase Deficiency beta Mannosidosis beta-Mannosidase Deficiencies beta-Mannosidase Deficiency beta-Mannosidoses |
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| Tree number(s): |
C16.320.565.202.607.750 C16.320.565.595.577.750 C18.452.648.202.607.750 C18.452.648.595.577.750 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D044905 | ||||||
| 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. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Mannosidase Deficiency Diseases (1984-2003) |
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| Public MeSH Note: | 2004 |
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| History Note: | 2004 |
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| Related: |
beta-Mannosidase
MeSH | ||||||
| DeCS ID: | 38054 | ||||||
| Unique ID: | D044905 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 2004/01/01 | ||||||
| Date of Entry: | 2003/07/09 | ||||||
| Revision Date: | 2018/11/02 |
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beta-Mannosidosis
- Preferred
| 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. |
| Preferred term | beta-Mannosidosis |
| Entry term(s) |
Lysosomal beta A Mannosidosis Lysosomal beta Mannosidase Deficiency Lysosomal beta-Mannosidase Deficiencies Lysosomal beta-Mannosidase Deficiency Mannosidosis, beta A, Lysosomal beta Mannosidase Deficiency beta Mannosidosis beta-Mannosidase Deficiencies beta-Mannosidase Deficiency beta-Mannosidoses |
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