01
- Entity Type
- Diseases
- Relation Groups
- 3
- Relation Preview
- 24
Basic Information
Grouped by core information, identifiers, and descriptions.
Current candidates are inferred from disease-target-ingredient-herb paths and do not represent a formal recommendation ranking.
Core Information
- Disease Name
- Lysosomal Storage Diseases
- Standard Disease Name
- lysosomal storage diseases
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- D016464
- OMIM ID
- No data
- UMLS ID
- C0085078
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_CDISC_1602D:Disorder caused by defects in the function of the lysosomes resulting in the presence of small clear vacuoles containing phospholipids within the cytoplasm of various cells. (INHAND)|NCI2016_02D:A group of autosomal recessive or X-linked inherited metabolic disorders caused by defects in the function of the lysosomes. Signs and symptoms include hepatomegaly, splenomegaly, nervous system manifestations, skeletal abnormalities, and mental deterioration. Representative examples include Gaucher disease, Niemann-Pick disease, Wolman disease, and Fabry disease.|MSH2017_2016_08_12:Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.|CSP2006:inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.
Related
Related Entities
Direct relations and traceable candidates grouped by relation type.
Candidate Ingredients
target disease -> ingredient target8 Ingredients
02
03
04
05
(+),n-methylcorydine
No data
06
(+),n-methylcorydine
No data
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08
