DiseaseID 875
高α脂蛋白血症1型
disease
HPO2016_07_04:An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood. [HPO:probinson]
Relationship Network
Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.
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Disease: 1Experiment: 3Formula: 16Herb: 12Symptom: 1Target: 24Links: 56
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 875
- Core Entity Id
- 985
- Source Entity Count
- 1
- Preferred Name
- Hyperalphalipoproteinemia 1
- Name Cn
- 高α脂蛋白血症1型
- Name Pinyin
- Gao Α Zhi Dan Bai Xue Zheng 1 Xing
- Name En
- Hyperalphalipoproteinemia 1
- 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 DiseasesNutritional and Metabolic Diseases
- Do Class
- genetic disease; disease of metabolism
- Hpo Class
- Abnormality of metabolism/homeostasis
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNutritional and Metabolic Diseases
- Hpo Class Name
- Abnormality of metabolism/homeostasis
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- HPO2016_07_04:An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood. [HPO:probinson]
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Hyperalphalipoproteinemia 1
Role
preferred
Name
Apolipoprotein C-Iii Deficiency
Role
preferred
Name
Cholesterol-Ester Transfer Protein Deficiency
Role
preferred
Name
Cholesteryl Ester Transfer Protein Deficiency
Role
preferred
Name
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Role
preferred
Name
Hyperlipidemia, Familial Combined
Role
preferred
Name
Increased HDL cholesterol concentration
Role
preferred
Name
CEPT Deficiency
Role
alias
Name
CETP DEFICIENCY
Role
alias
Name
CHOLESTEROL ESTER TRANSFER PROTEIN DEFICIENCY
Role
alias
Name
Familial Combined Hyperlipidemia
Role
alias
Name
Familial Hyperalphalipoproteinemia
Role
alias
Name
HALP1
Role
alias
Name
HALP2
Role
alias
Name
HDLCQ10
Role
alias
Name
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 10
Role
alias
Name
HYPERALPHALIPOPROTEINEMIA 2
Role
alias
Name
High Blood Hdl Level
Role
alias
Name
Hyperalphalipoproteinemia
Role
alias
Name
Hyperapobetalipoproteinemia
Role
alias
Name
Increased Circulating High-Density Lipoprotein Levels
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0008158HP:0012184
Herb
HBDIS001437HBDIS008100HBDIS020602HBDIS020830HBDIS027254
Me Sh
D006950
Omim
143470144250614028
Umls
C0020474C0342883C3149462C3149463C3151467
Icd10
E78.4
Sym Map
SMDE00277SMDE00864SMDE03349SMDE03930SMDE04153
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0020474C0342883C3149462C3151467C4551591
Orphanet
14090579506
Umls Sty
T033T047
Hpo Class
HP:0001939
Me Sh Class
C16C18
Etcm Disease
Hyperalphalipoproteinemia 1
Tcmbank Disease
1020219452205530088323386590
Itcmdb Generated
ITX-DISEASE-074B5287646EITX-DISEASE-1033E5851E0FITX-DISEASE-AC7760FC019F
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Page Title
Disease Hyperalphalipoproteinemia 1 Details page
Do Class Name
disease of metabolism; genetic disease
Disease Type
diseasephenotype
Hpo Class Name
Abnormality of metabolism/homeostasis
Do Disease Class
genetic disease; disease of metabolism
Hpo Disease Class
Abnormality of metabolism/homeostasis
Umls Disease Type
Disease or SyndromeFinding
Basic Information
Disease Name
Hyperalphalipoproteinemia 1
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Endocrine diseases
Disease Definition
HPO2016_07_04:An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood. [HPO:probinson]Hyperlipidemia due to hepatic triacylglycerol lipase deficiency is a rare, genetic hyperalphalipoproteinemia characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG NCI2016_02D:A disorder of lipoprotein metabolism characterized by high levels of cholesterol and triglycerides in the blood. It is caused by elevation of low density and very low density lipoproteins.|MSH2017_2016_08_12:A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma CHOLESTEROL and/or TRIGLYCERIDES. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (UPSTREAM STIMULATORY FACTORS) on CHROMOSOME 1.|HPO2016_07_04:Hyperapobetalipoproteinemia is defined as the combination of a normal low density lipoprotein (LDL) cholesterol in the face of an increased LDL apolipoprotein B (apoB) protein. [HPO:probinson, pmid:6579550]
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNutritional and Metabolic Diseases
Dis Ge Net Disease Type
diseasephenotype
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNutritional and Metabolic Diseases
Umls Semantic Type Name
Disease or SyndromeFinding