Search on: ALPHA-MANNOSIDOSIS 
Descriptors Found: 1
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Descriptor English:   alpha-Mannosidosis 
Descriptor Spanish:   alfa-Manosidosis 
Descriptor Portuguese:   alfa-Manosidose 
Synonyms English:   Alpha-D-Mannosidosis
Alpha-Mannosidase B Deficiency
Alpha-Mannosidosis, Type I
Deficiencies, Lysosomal alpha-D-Mannosidase
Deficiencies, alpha-Mannosidase
Deficiency, Lysosomal alpha-D-Mannosidase
Deficiency, alpha-Mannosidase
Lysosomal Alpha B Mannosidosis
Lysosomal alpha D Mannosidase Deficiency
Lysosomal alpha-D-Mannosidase Deficiencies
Lysosomal alpha-D-Mannosidase Deficiency
Mannosidosis, alpha B Lysosomal
Mannosidosis, alpha B, Lysosomal
alpha Mannosidase B Deficiency
alpha Mannosidase Deficiency
alpha Mannosidosis
alpha-D-Mannosidase Deficiencies, Lysosomal
alpha-D-Mannosidase Deficiency, Lysosomal
alpha-Mannosidase Deficiencies
alpha-Mannosidase Deficiency
alpha-Mannosidoses  
Tree Number:   C16.320.565.202.607.500
C16.320.565.595.577.500
C18.452.648.202.607.500
C18.452.648.595.577.500
Definition English:   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. 
See Related English:   alpha-Mannosidase
 
History Note English:   2004(1985) 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   8535 
Unique Identifier:   D008363 

Occurrence in VHL:
 

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