DiseaseID 8910
谷固醇血症
disease
NCI2016_02D:An extremely rare autosomal recessive inherited disorder caused by mutations in the ABCG5 or ABCG8 genes. It is characterized by a defective sterolin transporter that impairs the elimination of plant sterols
Relationship Network
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Disease: 1Symptom: 3Target: 11Links: 14
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 8910
- Core Entity Id
- 65908
- Source Entity Count
- 1
- Preferred Name
- Sitosterolemia
- Name Cn
- 谷固醇血症
- Name Pinyin
- Gu Gu Chun Xue Zheng
- Name En
- Sitosterolemia
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
- Do Class
- disease of anatomical entity; genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
- Hpo Class Name
- Do Class Name
- genetic disease; disease of anatomical entity
- Disease Definition
- NCI2016_02D:An extremely rare autosomal recessive inherited disorder caused by mutations in the ABCG5 or ABCG8 genes. It is characterized by a defective sterolin transporter that impairs the elimination of plant sterols and, to a lesser degree, cholesterol from the body. These fatty substances build up in the tissues including arteries and skin, resulting in atherosclerosis and xanthomas.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Sitosterolemia
Role
preferred
Name
Macrothrombocytopenia-Stomatocytosis, Mediterranean
Role
preferred
Name
MACROTHROMBOCYTOPENIA/STOMATOCYTOSIS, MEDITERRANEAN
Role
alias
Name
PHYTOSTEROLEMIA
Role
alias
Name
STSL
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS008108HBDIS019817
Omim
210250
Umls
C0342907C2749759
Sym Map
SMDE03007SMDE10632
Do Class
DOID:630DOID:7
Dis Ge Net
C0342907C2749759
Umls Sty
T019T047
Me Sh Class
C06C16C18
Tcmbank Disease
205397571
Itcmdb Generated
ITX-DISEASE-C5FC14011B63
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2v2
Suppress
0
Do Class Name
genetic disease; disease of anatomical entity
Disease Type
disease
Do Disease Class
disease of anatomical entity; genetic disease
Umls Disease Type
Congenital AbnormalityDisease or Syndrome
Disease Definition
NCI2016_02D:An extremely rare autosomal recessive inherited disorder caused by mutations in the ABCG5 or ABCG8 genes. It is characterized by a defective sterolin transporter that impairs the elimination of plant sterols and, to a lesser degree, cholesterol from the body. These fatty substances build up in the tissues including arteries and skin, resulting in atherosclerosis and xanthomas.
Me Sh Disease Class
Digestive System Diseases; 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; Digestive System Diseases; Nutritional and Metabolic Diseases
Umls Semantic Type Name
Congenital AbnormalityDisease or Syndrome