DiseaseID 25765
溶酶体βA甘露糖苷贮积症
Mannosidosis, Beta A, Lysosomal
NCI2016_02D:An autosomal recessive lysosomal storage disease characterized by a deficient activity of the enzyme beta-mannosidase. It is caused by mutations in the MANBA gene. Common features of this disorder are mental
Relationship Network
Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.
Click a node to open it in a new tab
Disease: 1Symptom: 7Target: 17Links: 31
Arranging relationship network...
Record Fields
Scalar fields from the final disease record.
- Disease Id
- 25765
- Core Entity Id
- 118333
- Source Entity Count
- 1
- Preferred Name
- Mannosidosis, Beta A, Lysosomal
- Name Cn
- 溶酶体βA甘露糖苷贮积症
- Name Pinyin
- Rong Mei Ti Βa Gan Lu Tang Gan Zhu Ji Zheng
- Name En
- Mannosidosis, Beta A, Lysosomal
- Name Latin
- Bilingual Status
- complete
- Disease Type
- Umls Disease Type
- Disgenet Type
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- NCI2016_02D:An autosomal recessive lysosomal storage disease characterized by a deficient activity of the enzyme beta-mannosidase. It is caused by mutations in the MANBA gene. Common features of this disorder are mental retardation, developmental delays and recurrent respiratory infections.|MSH2017_2016_08_12: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.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Mannosidosis, Beta A, Lysosomal
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C4048196
Sym Map
SMDE00251
Etcm Disease
Mannosidosis, Beta a, Lysosomal
Itcmdb Generated
ITX-DISEASE-E0B18D6371A3
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Mannosidosis, Beta a, Lysosomal Details page
Basic Information
Disease Name
Mannosidosis, Beta a, Lysosomal
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Bone diseases;Eye diseases;Mental diseases;Neuronal diseases
Disease Definition
NCI2016_02D:An autosomal recessive lysosomal storage disease characterized by a deficient activity of the enzyme beta-mannosidase. It is caused by mutations in the MANBA gene. Common features of this disorder are mental retardation, developmental delays and recurrent respiratory infections.|MSH2017_2016_08_12: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.