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beta-Mannosidosis
Hierarchy: | ∟ ∟ ∟ ∟ ∟ ∟ beta-Mannosidosis 1 coordinate concept∟ ∟ ∟ ∟ ∟ ∟ beta-Mannosidosis 1 coordinate concept∟ ∟ ∟ ∟ ∟ ∟ beta-Mannosidosis 1 coordinate concept∟ ∟ ∟ ∟ ∟ ∟ beta-Mannosidosis 1 coordinate conceptX |
Broader terms: | |
History note: | Mannosidase Deficiency Diseases (1984-2003)X |
historyNote*: | 2004
X |
publicMeSHNote*: | 2004
X |
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 itself with variety of symptoms that depend upon the type of gene mutation.
X |
activeMeSHYear*: | 2007X |
dateCreated*: | 2003-07-09X |
dateEstablished*: | 2004-01-01X |
dateRevised*: | 2006-07-05X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | lktX |
recordOriginator*: | jmpX |
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Labels and equivalent concepts: | Beetamannosidoosi (fi) XLysosomaalinen beeta-A-mannosidoosi (fi, replaced) Betamannosidos (sv) Mannosidosis, beta A, Lysosomal (en, replaced) beta-Mannosidase Deficiency (en, replaced) |
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