DiseaseID 4308
棘形红细胞增多症
disease
Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia (see this term) characterized by permanently low levels (below the 5
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: 1Herb: 3Symptom: 12Target: 26Links: 41
Arranging relationship network...
Record Fields
Scalar fields from the final disease record.
- Disease Id
- 4308
- Core Entity Id
- 60637
- Source Entity Count
- 2
- Preferred Name
- Acanthocytosis
- Name Cn
- 棘形红细胞增多症
- Name Pinyin
- Ji Xing Hong Xi Bao Zeng Duo Zheng
- Name En
- Acanthocytosis
- 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 DiseasesDigestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesHemic and Lymphatic DiseasesNervous System Diseases; 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 blood and blood-forming tissuesAbnormality of metabolism/homeostasis
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System DiseasesHemic and Lymphatic DiseasesNutritional and Metabolic Diseases
- Hpo Class Name
- Abnormality of blood and blood-forming tissuesAbnormality of metabolism/homeostasis
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia (see this term) characterized by permanently low levels (below the 5
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Acanthocytosis
Role
preferred
Name
Abetalipoproteinemia
Role
preferred
Name
Chylomicron Retention Disease
Role
preferred
Name
Familial Chylomicronemia Syndrome
Role
preferred
Name
Fish-Eye Disease
Role
preferred
Name
Hyperlipoproteinemia, Type I
Role
preferred
Name
Hyperlipoproteinemia, Type Id
Role
preferred
Name
Hypoalphalipoproteinemias
Role
preferred
Name
Hypobetalipoproteinemia, Familial, 1
Role
preferred
Name
Lecithin:Cholesterol Acyltransferase Deficiency
Role
preferred
Name
Tangier Disease
Role
preferred
Name
Tangier Disease Neuropathy
Role
preferred
Name
Acanthocytosis With Hypobetalipoproteinemia
Role
preferred
Name
Apolipoprotein A-I Deficiency
Role
preferred
Name
Apolipoprotein C-II Deficiency (disorder)
Role
preferred
Name
Choreoacanthocytosis
Role
preferred
Name
Decreased HDL cholesterol concentration
Role
preferred
Name
Familial Apolipoprotein C-Ii Deficiency
Role
preferred
Name
Familial HDL deficiency
Role
preferred
Name
Familial Hypobetalipoproteinemia
Role
preferred
Name
Hdl Deficiency, Type 2
Role
preferred
Name
High Density Lipoprotein Deficiency
Role
preferred
Name
Hyperlipoproteinemia Type I
Role
preferred
Name
Hypoalphalipoproteinemia, Familial
Role
preferred
Name
Hypobetalipoproteinemia, Familial, Apolipoprotein B
Role
preferred
Name
Hypolipoproteinemias
Role
preferred
Name
Hypoprebetalipoproteinemia
Role
preferred
Name
Lecithin Acyltransferase Deficiency
Role
preferred
Name
ABL
Role
alias
Name
ALPHA-LCAT DEFICIENCY
Role
alias
Name
ALPHA-LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY
Role
alias
Name
ANDD
Role
alias
Name
ANDERSON DISEASE
Role
alias
Name
ATP-binding Cassette Transporter A1 Deficiency
Role
alias
Name
Acanthocytes
Role
alias
Name
Analphalipoproteinemia
Role
alias
Name
Apolipoprotein C-Ii Deficiency
Role
alias
Name
BASSEN-KORNZWEIG SYNDROME
Role
alias
Name
Bassen-Kornzweig Disease
Role
alias
Name
CHYLOMICRONEMIA, FAMILIAL
Role
alias
Name
CMRD
Role
alias
Name
CRD
Role
alias
Name
DYSLIPOPROTEINEMIC CORNEAL DYSTROPHY
Role
alias
Name
Decreased Circulating High-Density Lipoprotein Cholesterol
Role
alias
Name
Decreased Circulating High-Density Lipoprotein Levels
Role
alias
Name
Decreased Hdl Cholesterol
Role
alias
Name
Defective Adenosine Triphosphate-binding Cassette Transporter A1
Role
alias
Name
FED
Role
alias
Name
FHBL
Role
alias
Name
FHBL1
Role
alias
Name
Familial Fat-Induced Hypertriglyceridemia
Role
alias
Name
Familial Gpihbp1 Deficiency
Role
alias
Name
Familial Hypobetalipoproteinemia 1
Role
alias
Name
Familial Lipoprotein Lipase Deficiency
Role
alias
Name
HDLDT1
Role
alias
Name
HIGH DENSITY LIPOPROTEIN DEFICIENCY, TANGIER TYPE
Role
alias
Name
HIGH DENSITY LIPOPROTEIN DEFICIENCY, TYPE 1
Role
alias
Name
HYPERCHYLOMICRONEMIA, FAMILIAL
Role
alias
Name
HYPERLIPEMIA, ESSENTIAL FAMILIAL
Role
alias
Name
HYPERLIPEMIA, IDIOPATHIC, BURGER-GRUTZ TYPE
Role
alias
Name
HYPERLIPOPROTEINEMIA, TYPE IA
Role
alias
Name
HYPOBETALIPOPROTEINEMIA WITH ACCUMULATION OF APOLIPOPROTEIN B-LIKE PROTEIN IN INTESTINAL CELLS
Role
alias
Name
HYPOBETALIPOPROTEINEMIA, FAMILIAL
Role
alias
Name
HYPOBETALIPOPROTEINEMIA, NORMOTRIGLYCERIDEMIC
Role
alias
Name
Homozygous Familial Hypobetalipoproteinemia
Role
alias
Name
Hyperchylomicronaemia
Role
alias
Name
Hypoalphalipoproteinemia
Role
alias
Name
Hypoalphalipoproteinemia, Primary
Role
alias
Name
Hypolipoproteinemia
Role
alias
Name
LCAT DEFICIENCY
Role
alias
Name
LCATA DEFICIENCY
Role
alias
Name
LIPASE D DEFICIENCY
Role
alias
Name
LIPD DEFICIENCY
Role
alias
Name
LIPID TRANSPORT DEFECT OF INTESTINE
Role
alias
Name
LIPOPROTEIN LIPASE DEFICIENCY
Role
alias
Name
LPL DEFICIENCY
Role
alias
Name
Lack of Fat In Blood
Role
alias
Name
Lecithin Cholesterol Acyltransferase Deficiency
Role
alias
Name
Lipoprotein Deficiency
Role
alias
Name
Low Hdl-Cholesterol
Role
alias
Name
MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY
Role
alias
Name
MTP DEFICIENCY
Role
alias
Name
NORUM DISEASE
Role
alias
Name
Partial LCAT Deficiency
Role
alias
Name
Red Cell Acanthocytosis
Role
alias
Name
TGD
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0001927HP:0003233HP:0008181HP:0010981
Herb
HBDIS000007HBDIS001491HBDIS001664HBDIS001758HBDIS002907HBDIS003588HBDIS006214HBDIS008106HBDIS008107HBDIS009629HBDIS010640HBDIS011351HBDIS011663HBDIS014743HBDIS014765HBDIS014897HBDIS014899HBDIS017976HBDIS020366HBDIS020936HBDIS022074HBDIS027376HBDIS029567
Me Sh
D000012D007009D007863D008072D013631D052456D052476
Omim
118830136120200100205400207750238600245900246700604091615558615947
Umls
C0000744C0023195C0023817C0039292C0342895C0342898C0393576C0473527C0687751C0751544C0795956C1704299C1704429C1862596C4014767
Icd10
E78.3E78.6
Med Dra
1005187510065133
Sym Map
SMDE00011SMDE00796SMDE02059SMDE02892SMDE03652SMDE03850SMDE03915SMDE04497SMDE04535SMDE04604SMDE04730SMDE05314SMDE08638SMDE09683SMDE09684SMDE09685SMDE13802
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0000744C0020623C0023195C0023817C0039292C0151691C0268199C0342895C0342898C0473527C0687751C0751544C0795956C1704299C1704429C1720772C1720779C1862596C2931838C3165209C3711531C4014767C4551990
Orphanet
142388311504254444907179292
Umls Sty
T033T046T047
Hpo Class
HP:0001871HP:0001939
Me Sh Class
C06C10C15C16C18
Etcm Disease
AbetalipoproteinemiaChoreoacanthocytosisChylomicron Retention DiseaseFish-Eye DiseaseHyperlipoproteinemia, Type IHyperlipoproteinemia, Type IdHypobetalipoproteinemia, Familial, 1Lecithin:cholesterol Acyltransferase Deficiency
Tcmbank Disease
1233812921134511452515812172071777918357193322042820468218972577826366278802868030138311143171535538815015802884428853
Itcmdb Generated
ITX-DISEASE-0765388D1419ITX-DISEASE-2281EAC49507ITX-DISEASE-3EEF4B4B9D39ITX-DISEASE-4721E7FBE57AITX-DISEASE-47768896AAFAITX-DISEASE-74461267CDB9ITX-DISEASE-844B97B4FD84ITX-DISEASE-91AAB4BADCB0ITX-DISEASE-91DEFEEC87F5ITX-DISEASE-9686338AF89AITX-DISEASE-9949AA5F97CAITX-DISEASE-A0D001B2AE0EITX-DISEASE-B1524536DD45ITX-DISEASE-C2492166E8ABITX-DISEASE-C6B56C8552BEITX-DISEASE-E23BFD821BFD
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Abetalipoproteinemia Details pageDisease Choreoacanthocytosis Details pageDisease Chylomicron Retention Disease Details pageDisease Fish-Eye Disease Details pageDisease Hyperlipoproteinemia, Type I Details pageDisease Hyperlipoproteinemia, Type Id Details pageDisease Hypobetalipoproteinemia, Familial, 1 Details pageDisease Lecithin:cholesterol Acyltransferase Deficiency Details page
Do Class Name
disease of metabolism; genetic disease
Disease Type
diseasephenotype
Hpo Class Name
Abnormality of blood and blood-forming tissuesAbnormality of metabolism/homeostasis
Do Disease Class
genetic disease; disease of metabolism
Hpo Disease Class
Abnormality of blood and blood-forming tissuesAbnormality of metabolism/homeostasis
Umls Disease Type
Disease or SyndromeFindingPathologic Function
Basic Information
Disease Name
Abetalipoproteinemia
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Endocrine diseases;Eye diseases;Gastrointestinal Diseases;Neuronal diseases
Disease Name
Choreoacanthocytosis
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Neuronal diseases;Oral diseases;Skin diseases
Disease Name
Chylomicron Retention Disease
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Endocrine diseases;Gastrointestinal Diseases
Disease Name
Fish-Eye Disease
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Endocrine diseases;Eye diseases;Nephrological diseases
Disease Name
Hyperlipoproteinemia, Type I
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Endocrine diseases;Liver diseases;Respiratory diseases
Disease Name
Hyperlipoproteinemia, Type Id
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Endocrine diseases;Liver diseases;Respiratory diseases
Disease Name
Hypobetalipoproteinemia, Familial, 1
Global Category
Genetic diseases;Metabolic diseases
Anatomical Category
Neuronal diseases
Disease Name
Lecithin:cholesterol Acyltransferase Deficiency
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Endocrine diseases;Eye diseases;Nephrological diseases
Disease Definition
Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia (see this term) characterized by permanently low levels (below the 5Apolipoprotein AI (Apo A-I) deficiency is a rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including moChylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalFish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantlHPO2016_07_04:Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars. [HPO:probinson]MSH2017_2016_08_12:An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption.NCI2016_02D:A disorder of lipoprotein metabolism caused by mutations in the LCAT gene. It is characterized by deficiency of the enzyme lecithin cholesterol acyltransferase. It is manifested with corneal opacity, hemolytic anemia, and proteinuria.|MSH2017_2016_08_12:An autosomal recessive disorder of lipoprotein metabolism caused by mutation of LECITHIN CHOLESTEROL ACYLTRANSFERASE gene. It is characterized by low HDL-cholesterol levels, and the triad of CORNEAL OPACITIES; HEMOLYTIC ANEMIA; and PROTEINURIA with renal failure.|CSP2006:disease characterized by abnormally low levels of plasma lecithin cholesterol acyl transferase; clinical manifestations include corneal opacity, anemia, and proteinuria.NCI2016_02D:A genetic disorder of lipoprotein metabolism caused by mutations in the LPL and apolipoprotein (apo) C-II genes. It is characterized by increased levels of chylomicrons and triglycerides in the blood.|MSH2017_2016_08_12:An inherited condition due to a deficiency of either LIPOPROTEIN LIPASE or APOLIPOPROTEIN C-II (a lipase-activating protein). The lack of lipase activities results in inability to remove CHYLOMICRONS and TRIGLYCERIDES from the blood which has a creamy top layer after standing.|CSP2006:rare familial condition characterized by massive chylomicronemia and decreased levels of other lipoproteins; due to deficiency of lipoprotein lipase, an alkaline triglyceride hydrolase which catalyzes an important step in the extrahepatic removal of triglyceride-rich lipoproteins from the blood.NCI2016_02D:A metabolic disorder characterized by deficiency of high density (alpha) lipoprotein in the blood.|MSH2017_2016_08_12:Conditions with abnormally low levels of ALPHA-LIPOPROTEINS (high-density lipoproteins) in the blood. Hypoalphalipoproteinemia can be associated with mutations in genes encoding APOLIPOPROTEIN A-I; LECITHIN CHOLESTEROL ACYLTRANSFERASE; and ATP-BINDING CASSETTE TRANSPORTERS.|HPO2016_07_04:An decreased concentration of high-density lipoprotein cholesterol in the blood. [HPO:gcarletti]Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lym
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesDigestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesHemic and Lymphatic DiseasesNervous System Diseases; 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; Digestive System Diseases; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System DiseasesHemic and Lymphatic DiseasesNutritional and Metabolic Diseases
Umls Semantic Type Name
Disease or SyndromeFindingPathologic Function