DiseaseID 3634
胆固醇酯贮积病
disease
Cholesteryl ester storage disease (CESD) is a very rare, late-onset, genetic endocrine disease characterized by deficient or inactive lysosomal acid lipase (LAL) causing lipid build-up, which leads to
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: 10Target: 12Links: 22
Arranging relationship network...
Record Fields
Scalar fields from the final disease record.
- Disease Id
- 3634
- Core Entity Id
- 59864
- Source Entity Count
- 1
- Preferred Name
- Cholesterol Ester Storage Disease
- Name Cn
- 胆固醇酯贮积病
- Name Pinyin
- Dan Gu Chun Zhi Zhu Ji Bing
- Name En
- Cholesterol Ester Storage Disease
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- 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
- Cholesteryl ester storage disease (CESD) is a very rare, late-onset, genetic endocrine disease characterized by deficient or inactive lysosomal acid lipase (LAL) causing lipid build-up, which leads to
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Cholesterol Ester Storage Disease
Role
preferred
Name
Lipa Gene
Role
preferred
Name
Cholesteryl Ester Storage Disease
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS000556
Me Sh
D015217
Umls
C0008384C1416865
Sym Map
SMDE01663SMDE10453
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0008384
Orphanet
75234
Umls Sty
T047
Me Sh Class
C16C18
Tcmbank Disease
31037
Itcmdb Generated
ITX-DISEASE-B28610F14CDB
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2v2
Suppress
0
Do Class Name
disease of metabolism; genetic disease
Disease Type
disease
Do Disease Class
genetic disease; disease of metabolism
Umls Disease Type
Disease or Syndrome
Disease Definition
Cholesteryl ester storage disease (CESD) is a very rare, late-onset, genetic endocrine disease characterized by deficient or inactive lysosomal acid lipase (LAL) causing lipid build-up, which leads to
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Umls Semantic Type Name
Disease or Syndrome