DiseaseID 5496
溶酶体贮积症
group
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 gro
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Disease: 1Symptom: 1Target: 12Links: 13
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 5496
- Core Entity Id
- 62008
- Source Entity Count
- 1
- Preferred Name
- Lysosomal Storage Diseases
- Name Cn
- 溶酶体贮积症
- Name Pinyin
- Rong Mei Ti Zhu Ji Zheng
- Name En
- Lysosomal Storage Diseases
- Name Latin
- Bilingual Status
- complete
- Disease Type
- group
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- group
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
- Do Class
- genetic disease; disease of metabolism
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
- Hpo Class Name
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- 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.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Lysosomal Storage Diseases
Role
preferred
Name
Lysosomal Storage Disease
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS003235
Me Sh
D016464
Umls
C0085078
Sym Map
SMDE10621
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0085078
Umls Sty
T047
Me Sh Class
C16C18
Tcmbank Disease
5860
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Do Class Name
disease of metabolism; genetic disease
Disease Type
group
Do Disease Class
genetic disease; disease of metabolism
Umls Disease Type
Disease or Syndrome
Disease Definition
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.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Dis Ge Net Disease Type
group
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Umls Semantic Type Name
Disease or Syndrome