DiseaseID 4257
A组高脂血症
disease
MSH2017_2016_08_12:Type IIb hyperlipoproteinemia is caused by mutation in the receptor-binding domain of APOLIPOPROTEIN B-100 which is a major component of LOW-DENSITY LIPOPROTEINS and VERY-LOW-DENSITY LIPOPROTEINS resul
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Disease: 1Experiment: 4Formula: 1Herb: 1Symptom: 5Target: 24Links: 35
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 4257
- Core Entity Id
- 60579
- Source Entity Count
- 1
- Preferred Name
- Hyperlipidemia, Group A
- Name Cn
- A组高脂血症
- Name Pinyin
- A Zu Gao Zhi Xue Zheng
- Name En
- Hyperlipidemia, Group A
- 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
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNutritional and Metabolic Diseases
- Hpo Class Name
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- MSH2017_2016_08_12:Type IIb hyperlipoproteinemia is caused by mutation in the receptor-binding domain of APOLIPOPROTEIN B-100 which is a major component of LOW-DENSITY LIPOPROTEINS and VERY-LOW-DENSITY LIPOPROTEINS resulting in reduced clearance of these lipoproteins. It is characterized by both hypercholesterolemia and HYPERTRIGLYCERIDEMIA (combined hyperlipidemia).
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Hyperlipidemia, Group A
Role
preferred
Name
Homozygous Familial Hypercholesterolemia
Role
preferred
Name
Hypercholesterolemia, Autosomal Dominant, Type B
Role
preferred
Name
Hypercholesterolemia, Autosomal Recessive
Role
preferred
Name
Hypercholesterolemia, Familial
Role
preferred
Name
Familial Hypercholesterolemia - Homozygous
Role
preferred
Name
Hypercholesterolemia, Familial, Due To Ligand-Defective Apolipoprotein B
Role
preferred
Name
Hyperlipoproteinemia Type IIa
Role
preferred
Name
Hyperlipoproteinemia Type IIb
Role
preferred
Name
APOLIPOPROTEIN B-100, FAMILIAL DEFECTIVE
Role
alias
Name
APOLIPOPROTEIN B-100, FAMILIAL LIGAND-DEFECTIVE
Role
alias
Name
ARH
Role
alias
Name
ARH1, FORMERLY
Role
alias
Name
ARH2, FORMERLY
Role
alias
Name
Autosomal Recessive Hypercholesterolemia
Role
alias
Name
FH
Role
alias
Name
FHC
Role
alias
Name
FHCB1, FORMERLY
Role
alias
Name
FHCB2, FORMERLY
Role
alias
Name
Familial Hypercholesterolemia
Role
alias
Name
HYPER-LOW-DENSITY-LIPOPROTEINEMIA
Role
alias
Name
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 1, FORMERLY
Role
alias
Name
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 2, FORMERLY
Role
alias
Name
HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL
Role
alias
Name
HYPERLIPOPROTEINEMIA, TYPE II
Role
alias
Name
HYPERLIPOPROTEINEMIA, TYPE IIA
Role
alias
Name
HoFH
Role
alias
Name
Hyperlipoproteinemia Type Ii
Role
alias
Name
LDL RECEPTOR DISORDER
Role
alias
Name
LDLCQ2
Role
alias
Name
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 2
Role
alias
Name
Pure Hypercholesterolaemia
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS001426HBDIS008098HBDIS010528HBDIS010932HBDIS014762HBDIS018033HBDIS022801
Me Sh
D006938
Omim
143890144010602247603813
Umls
C0020445C0342881C0745103C1704417C1863512C3276941C3888316
Icd10
E78.0
Sym Map
SMDE01146SMDE02210SMDE02953SMDE02983
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0020445C0342881C0678189C0745103C1704417C1863512C3888316
Orphanet
391665
Umls Sty
T047
Me Sh Class
C16C18
Etcm Disease
Homozygous Familial Hypercholesterolemia
Tcmbank Disease
12702135281529919831202442552629653
Itcmdb Generated
ITX-DISEASE-AE245E23EFC8ITX-DISEASE-E6D7946E6B6D
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2
Suppress
0
Page Title
Disease Homozygous Familial Hypercholesterolemia Details page
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
Basic Information
Disease Name
Homozygous Familial Hypercholesterolemia
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Endocrine diseases
Disease Definition
MSH2017_2016_08_12:Type IIb hyperlipoproteinemia is caused by mutation in the receptor-binding domain of APOLIPOPROTEIN B-100 which is a major component of LOW-DENSITY LIPOPROTEINS and VERY-LOW-DENSITY LIPOPROTEINS resulting in reduced clearance of these lipoproteins. It is characterized by both hypercholesterolemia and HYPERTRIGLYCERIDEMIA (combined hyperlipidemia).NCI2016_02D:An inheritable form of hyperlipidemia, in which there are excess lipids in the blood.|MSH2017_2016_08_12:A group of familial disorders characterized by elevated circulating cholesterol contained in either LOW-DENSITY LIPOPROTEINS alone or also in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins).|HPO2016_07_04:An elevated concentration of low-density lipoprotein cholesterol in the blood. [HPO:probinson]|CSP2006:characterized by increased plasma concentration of cholesterol carried in low density lipoproteins (LDL) and by a deficiency in a cell surface receptor which regulates LDL degradation and cholesterol synthesis.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNutritional and Metabolic Diseases
Dis Ge Net Disease Type
disease
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 Syndrome