DiseaseID 26033
α-B甘露糖苷贮积症（溶酶体）
Mannosidosis, Alpha B, Lysosomal
NCI2016_02D:An autosomal recessive lysosomal storage disease characterized by deficient activity of the enzyme alpha-D-mannosidase. There is a wide range of signs and symptoms including hepatomegaly, splenomegaly, hearin
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Disease: 1Symptom: 4Target: 18Links: 28
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26033
- Core Entity Id
- 118601
- Source Entity Count
- 1
- Preferred Name
- Mannosidosis, Alpha B, Lysosomal
- Name Cn
- α-B甘露糖苷贮积症（溶酶体）
- Name Pinyin
- Α-b Gan Lu Tang Gan Zhu Ji Zheng （ Rong Mei Ti ）
- Name En
- Mannosidosis, Alpha B, 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 deficient activity of the enzyme alpha-D-mannosidase. There is a wide range of signs and symptoms including hepatomegaly, splenomegaly, hearing loss, respiratory infections, mental retardation, skeletal abnormalities, leveled nasal bridge and protruding forehead.|MSH2017_2016_08_12: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.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Mannosidosis, Alpha B, Lysosomal
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C0024748
Sym Map
SMDE01657
Etcm Disease
Mannosidosis, Alpha B, Lysosomal
Itcmdb Generated
ITX-DISEASE-FE89944F53E4
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Mannosidosis, Alpha B, Lysosomal Details page
Basic Information
Disease Name
Mannosidosis, Alpha B, 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 deficient activity of the enzyme alpha-D-mannosidase. There is a wide range of signs and symptoms including hepatomegaly, splenomegaly, hearing loss, respiratory infections, mental retardation, skeletal abnormalities, leveled nasal bridge and protruding forehead.|MSH2017_2016_08_12: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.