| 疾病名称 |
别名 |
|
| Sitosterolemia 1 |
|
Phytosterolemia
|
STSL1
|
|
Stsl
|
Shellfish Sterolemia
|
|
|
| Gallbladder Disease 4 |
|
GBD4
|
Gallbladder Disease, Type 4
|
|
|
| Sitosterolemia |
|
Phytosterolemia
|
Beta-Sitosterolemia
|
|
Plant Sterol Storage Disease
|
Phytosterolæmia
|
|
Sitosterolæmia
|
Retention Of Dietary Cholesterol And Abnormal Retention Of Non-Cholesterol Sterols In The Body
|
|
Phytosterolaemia
|
Sitosterolaemia
|
|
Sitosterolemia With Xanthomatosis
|
|
|
| Lipid Metabolism Disorder |
|
Dyslipidemia
|
Disorder Of Fatty Acid Metabolism
|
|
Lipid Metabolism Disorders
|
Fatty Acid Metabolism Disorder
|
|
Disorder Of Lipid Metabolism
|
Abnormality Of Lipid Metabolism
|
|
Lipid Metabolism, Inborn Errors
|
Dyslipidemias
|
|
Disorders Of Lipid Metabolism
|
Congenital Disorders Of Lipid Metabolism
|
|
Inherited Disorders Of Lipid Metabolism
|
|
|
| Cholelithiasis |
|
|
| Gallbladder Disease |
|
Gallbladder Diseases
|
Gall Bladder
|
|
Gall Bladder Diseases
|
Abnormal Gallbladder Function
|
|
|
| Homozygous Familial Hypercholesterolemia |
|
|
| Cholestasis |
|
Obstruction Of Bile Duct
|
Bile Duct Obstruction
|
|
Bile Occlusion
|
Extrahepatic Biliary Obstruction
|
|
Extrahepatic Bile Duct Obstruction
|
Bile Stasis
|
|
Biliary Stasis
|
Obstructive Hyperbilirubinemia
|
|
Obstructed Jaundice
|
Bile Duct Obstructed
|
|
Bile Ductal Obstruction
|
Biliary Duct Obstruction
|
|
Obstructed Bile Ductal
|
Obstructed Biliary Duct
|
|
Obstructed Biliary Ductal
|
Jaundice Regurgitation
|
|
Obstructive Jaundice
|
Cholestatic Jaundice
|
|
Cholestatic Jaundice Syndrome
|
|
|
| Familial Hypercholesterolemia |
|
Hyperlipoproteinemia Type Iia
|
Familial Hyperbetalipoproteinaemia
|
|
Familial Hypercholesteremia
|
Fredrickson Type Iia Hyperlipoproteinemia
|
|
Fredrickson Type Iia Lipidaemia
|
Hyperbetalipoproteinemia
|
|
Type Ii Hyperlipidemia
|
Familial Hypercholesterolæmia
|
|
Familial Hypercholesterolaemia
|
Fh
|
|
Hypercholesterolemia Familial
|
Hyperlipoproteinemia Type Ii
|
|
Hypercholesterolemia, Familial
|
|
|
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Autosomal Recessive
|
Arh
|
|
FHCL4
|
Autosomal Recessive Hypercholesterolemia
|
|
Arh1
|
Arh2
|
|
Autosomal Recessive Hypercholesterolemia 1
|
Autosomal Recessive Hypercholesterolemia 2
|
|
Fhcb1
|
Fhcb2
|
|
Hypercholesterolemia, Autosomal Recessive, 1, Formerly
|
Arh1, Formerly
|
|
Fhcb1, Formerly
|
Hypercholesterolemia, Autosomal Recessive, 2, Formerly
|
|
Arh2, Formerly
|
Fhcb2, Formerly
|
|
Familial Autosomal Recessive Hypercholesterolemia
|
Hypercholesterolemia, Familial, Autosomal Recessive
|
|
Hypercholesterolemia, Familial, Type 4
|
|
|
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Benign Recurrent Intrahepatic Cholestasis
|
BRIC1
|
|
Summerskill Syndrome
|
Bric
|
|
Summerskill-Walshe-Tygstrup Syndrome
|
Cholestasis, Benign Recurrent Intrahepatic
|
|
Benign Recurrent Intrahepatic Cholestasis 1
|
Benign Recurrent Intrahepatic Cholestasis Type 1
|
|
Bric Type 1
|
Low Gamma-Gt Familial Intrahepatic Cholestasis
|
|
Recurrent Familial Intrahepatic Cholestasis
|
Cholestasis, Benign Recurrent Intrahepatic 1
|
|
Mild Atp8b1 Deficiency
|
Recurrent Familial Intrahepatic Cholestasis 1
|
|
Abcb11-Related Intrahepatic Cholestasis
|
Atp8b1-Related Intrahepatic Cholestasis
|
|
Cholestasis, Intrahepatic, Recurrent, Benign, Type 1
|
Progressive Intrahepatic Cholestasis
|
|
Cholestasis, Progressive Familial Intrahepatic 3
|
Bric - [Benign Recurrent Intrahepatic Cholestasis]
|
|
|
| Sea-Blue Histiocyte Disease |
|
Sea-Blue Histiocytosis
|
Sea-Blue Histiocyte Syndrome
|
|
Histiocytosis, Sea-Blue
|
Inherited Lipemic Splenomegaly
|
|
SBHD
|
|
|
| Arcus Corneae |
|
Arcus Senilis
|
Corneal Arcus
|
|
Arcus Of Cornea
|
|
|
| Hypercholesterolemia, Familial, 1 |
|
Hypercholesterolemia
|
FHCL1
|
|
Fhc
|
Fh
|
|
Hyperlipoproteinemia, Type Ii
|
Hyperlipoproteinemia, Type Iia
|
|
Hyper-Low-Density-Lipoproteinemia
|
Hypercholesterolemic Xanthomatosis, Familial
|
|
Ldl Receptor Disorder
|
Hypercholesterolemia, Susceptibility To
|
|
Hypercholesterolemia, Familial, Modifier Of
|
Hypercholesterolemia, Familial, Due To Ldlr Defect, Modifier Of
|
|
Ldl Cholesterol Level Qtl2
|
Hyperlipoproteinemia Type Ii
|
|
Hypercholesterolemia, Familial, Type 1
|
High Cholesterol
|
|
Increased Cholesterol
|
Low-Density-Lipoid-Type Hyperlipoproteinemia
|
|
Pure Hypercholesterolaemia
|
Ldl - [Low Density Lipoprotein} Hyperlipoproteinemia
|
|
Group A Hyperlipidaemia
|
Pure Hypercholesterinaemia
|
|
Cholesterolaemia
|
Essential Cholesterolaemia
|
|
Essential Hypercholesterolaemia
|
Group A Hyperlipemia
|
|
Increased Low Density Lipoprotein
|
Low-Density-Lipoprotein-Type
|
|
Low-Density-Lipoprotein-Type Hyperlipoproteinemia
|
|
|
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
PFIC3
|
Cholestasis, Progressive Familial Intrahepatic 3
|
|
Mdr3 Deficiency
|
Progressive Familial Intrahepatic Cholestasis Type 3
|
|
Progressive Familial Intrahepatic Cholestasis 3
|
Progressive Familial Intrahepatic Cholestasis With Elevated Serum Gamma-Glutamyltransferase
|
|
Cholestasis, Progressive Familial Intrahepatic, With Elevated Serum Gamma-Glutamyltransferase
|
Progressive Familial Intrahepatic Cholestasis With Elevated Serum Gama-Glutamyltransferase
|
|
Cholestasis, Intrahepatic, Familial, Progressive, Type 3
|
|
|
| Cholecystolithiasis |
|
|
| Progressive Familial Intrahepatic Cholestasis |
|
Abcb4-Related Intrahepatic Cholestasis
|
Cholestasis, Progressive Familial Intrahepatic
|
|
Pfic
|
Byler Disease
|
|
Abcb11-Related Intrahepatic Cholestasis
|
Atp8b1-Related Intrahepatic Cholestasis
|
|
Bsep Deficiency
|
Byler Disease
|
|
Byler Syndrome
|
Fic1 Deficiency
|
|
Low Γ-Gt Familial Intrahepatic Cholestasis
|
Mdr3 Deficiency
|
|
Pfic
|
Cholestasis, Intrahepatic, Familial, Progressive
|
|
Pfic - [Progressive Familial Intrahepatic Cholestasis]
|
|
|
| Hypolipoproteinemia |
|
Hypolipoproteinaemia
|
Lipoprotein Deficiencies
|
|
Lipoprotein Disorder
|
Hypolipoproteinemias
|
|
Lipoprotein
|
Lipoprotein Deficiency
|
|
Hypolipidaemia
|
Lipoprotein Deficiency Disorder
|
|
High-Density Lipoid Deficiency
|
High-Density Lipoprotein Deficiency
|
|
Dyslipidaemia, Depressed Hdl Cholesterol
|
|
|
| Corneal Degeneration |
|
Degenerative Corneal Opacity
|
|
|
| Tangier Disease |
|
Analphalipoproteinemia
|
High Density Lipoprotein Deficiency, Tangier Type
|
|
TGD
|
High Density Lipoprotein Deficiency, Type 1
|
|
Hdldt1
|
Familial High Density Lipoprotein Deficiency
|
|
A-Alphalipoprotein Neuropathy
|
Alpha High Density Lipoprotein Deficiency Disease
|
|
Cholesterol Thesaurismosis
|
Familial High Density Lipoprotein Deficiency Disease
|
|
Hdl Lipoprotein Deficiency Disease
|
Tangier Disease Neuropathy
|
|
Familial Alpha-Lipoprotein Deficiency
|
Familial High-Density Lipoprotein Deficiency 1
|
|
Primary Hypoalphalipoproteinemia 1
|
Analphalipo-Proteinemia
|
|
Familial Hypoalphalipo-Proteinemia
|
Familial Hypoalphalipoproteinemia
|
|
Lipoprotein Deficiency Disease, Hdl, Familial
|
Tangier Hereditary Neuropathy
|
|
Atp-Binding Cassette Transporter A1 Deficiency
|
Hdld1
|
|
High Density Lipoprotein Deficiency 1
|
Tangier Disease, Variant
|
|
Hypoalphalipoproteinemia, Familial
|
Familial Hdl Deficiency
|
|
|
| Intrahepatic Cholestasis Of Pregnancy |
|
Recurrent Intrahepatic Cholestasis Of Pregnancy
|
Gravidic Intrahepatic Cholestasis
|
|
Pregnancy-Related Cholestasis
|
Icp
|
|
Pregnancy Related Cholestasis
|
Cholestasis, Intrahepatic Of Pregnancy
|
|
Familial Intrahepatic Cholestasis Of Pregnancy
|
Familial Recurrent Intrahepatic Cholestasis Of Pregnancy
|
|
Ricp
|
Obstetric Cholestasis
|
|
|
| Achromatopsia 7 |
|
ACHM7
|
Achromatopsia, Type 7
|
|
|
| Thrombocytopenia |
|
Low Platelet Count
|
Low Platelets
|
|
Decreased Platelets
|
Platelet Dysfunction Nos
|
|
|
| Niemann-Pick Disease, Type C1 |
|
Niemann-Pick Disease, Type C
|
NPC1
|
|
Niemann-Pick Disease, Type D
|
Niemann-Pick Disease Type C1
|
|
Niemann-Pick Disease With Cholesterol Esterification Block
|
Niemann-Pick Disease, Subacute Juvenile Form
|
|
Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia
|
Npc
|
|
Niemann-Pick Disease, Chronic Neuronopathic Form
|
Niemann-Pick Disease Without Sphingomyelinase Deficiency
|
|
Niemann-Pick Disease Type C
|
Niemann-Pick Disease Type D
|
|
Niemann-Pick C1 Disease
|
Niemann-Pick Disease C1
|
|
Niemann-Pick Disease Chronic Neuronopathic Form
|
Niemann-Pick Disease Nova Scotian Type
|
|
Niemann-Pick Disease Subacute Juvenile Form
|
Niemann-Pick Disease Type Ii
|
|
Niemann-Picks Disease Type C
|
|
|
| Bilirubin Metabolic Disorder |
|
Hyperbilirubinemia
|
Hereditary Hyperbilirubinemia
|
|
Hyperbilirubinemia, Hereditary
|
Hyperbilirubinaemia
|
|
|
