| 疾病名称 |
别名 |
|
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Davidson Disease
|
DIAR2
|
|
Microvillus Inclusion Disease 1
|
Mvid1
|
|
Congenital Familial Protracted Diarrhea With Enterocyte Brush-Border Abnormalities
|
Diarrhea 2, With Microvillus Atrophy
|
|
Microvillus Atrophy, Congenital
|
Diarrhea With Microvillus Atrophy 2
|
|
Diarrhea 2
|
Intractable Diarrhea Of Infancy
|
|
Microvillus Atrophy Congenital
|
Microvillus Inclusion Disease
|
|
|
| Microvillus Inclusion Disease |
|
Congenital Microvillous Atrophy
|
Intractable Diarrhea Of Infancy
|
|
Congenital Familial Protracted Diarrhea With Enterocyte Brush-Border Abnormalities
|
Davidson Disease
|
|
Microvillous Inclusion Disease
|
Congenital Microvillus Atrophy
|
|
Mvid
|
Diarrhea 2 With Microvillus Atrophy
|
|
Mvd
|
Congenital Familial Protracted Diarrhea
|
|
Davidson'S Disease
|
Familial Enteropathy, Microvillus
|
|
Microvillus Atrophy, Congenital
|
Congenital Enteropathy
|
|
Familial Protracted Enteropathy
|
Microvillous Atrophy
|
|
Microvillus Atrophy With Diarrhea 2
|
Idi
|
|
|
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
|
| Myo5b-Related Progressive Familial Intrahepatic Cholestasis |
|
|
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
PFIC1
|
Byler Disease
|
|
Cholestasis, Progressive Familial Intrahepatic 1
|
Progressive Familial Intrahepatic Cholestasis 1
|
|
Progressive Familial Intrahepatic Cholestasis Type 1
|
Fic1 Deficiency
|
|
Byler'S Disease
|
Cholestasis, Fatal Intrahepatic
|
|
Progressive Familial Intrahepatic Cholestasis
|
Severe Atp8b1 Deficiency
|
|
Fatal Intrahepatic Cholestasis
|
Cholestasis, Intrahepatic, Familial, Progressive, Type 1
|
|
Progressive Intrahepatic Cholestasis
|
Cholestasis, Progressive Familial Intrahepatic 3
|
|
|
| Diarrhea |
|
Diarrhoea
|
Diarrhea Of Presumed Infectious Origin
|
|
|
| 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
|
|
|
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
PFIC5
|
Progressive Familial Intrahepatic Cholestasis 5
|
|
Nr1h4 Deficiency
|
Progressive Familial Intrahepatic Cholestasis Type 5
|
|
Cholestasis, Intrahepatic, Familial, Progressive, Type 5
|
|
|
| Diarrhea 8, Secretory Sodium, Congenital |
|
Congenital Secretory Sodium Diarrhea 8
|
DIAR8
|
|
Diarrhea, Congenital Sodium
|
Csd
|
|
Congenital Secretory Diarrhea, Sodium Type
|
|
|
| Congenital Diarrhea |
|
|
| Diarrhea 4, Malabsorptive, Congenital |
|
Enteric Anendocrinosis
|
Congenital Malabsorptive Diarrhea 4
|
|
DIAR4
|
Congenital Malabsorptive Diarrhea Due To Paucity Of Enteroendocrine Cells
|
|
Congenital Malabsorptive Diarrhoea 4
|
Congenital Malabsorptive Diarrhoea Due To Paucity Of Enteroendocrine Cells
|
|
Diarrhea, Type 4, Malabsorptive, Congenital
|
|
|
| Fanconi Renotubular Syndrome 1 |
|
Renal Fanconi Syndrome
|
Adult Fanconi Syndrome
|
|
FRTS1
|
Fanconi Renotubular Syndrome
|
|
Frts
|
Rfs
|
|
Fanconi Syndrome Without Cystinosis
|
Luder-Sheldon Syndrome
|
|
|
| Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Congenital Diarrhea 5 With Tufting Enteropathy
|
Congenital Tufting Enteropathy
|
|
DIAR5
|
Cte
|
|
Intestinal Epithelial Cell Dysplasia
|
Tufting Enteropathy
|
|
Ied
|
Intestinal Epithelial Dysplasia
|
|
Enteropathy, Congenital Tufting
|
Congenital Diarrhoea 5 With Tufting Enteropathy
|
|
Congenital Familial Intractable Diarrhea With Epithelial Or Epithelium Abnormalities
|
Congenital Familial Intractable Diarrhoea With Epithelial Or Epithelium Abnormalities
|
|
Congenital Enteropathy
|
Congenital Familial Intractable Diarrhea With Enterocytes Assembly Abnormalities
|
|
Non-Syndromic Congenital Tufting Enteropathy
|
Diarrhea, Type 5, With Tufting Enteropathy, Congenital
|
|
Intestinal Intraepithelial Neoplasia
|
|
|
| Cholestasis, Progressive Familial Intrahepatic, 4 |
|
PFIC4
|
Progressive Familial Intrahepatic Cholestasis 4
|
|
Cholestasis, Progressive Familial Intrahepatic 4
|
Tjp2 Deficit
|
|
Progressive Familial Intrahepatic Cholestasis-4
|
3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency
|
|
Progressive Familial Intrahepatic Cholestasis Type 4
|
Cholestasis, Intrahepatic, Familial, Progressive, Type 4
|
|
Bile Acid Synthesis Defect, Congenital, 1
|
|
|
| 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]
|
|
|
| Fanconi Syndrome |
|
Infantile Nephropathic Cystinosis
|
Adult Fanconi Syndrome
|
|
Congenital Fanconi Syndrome
|
De Toni-Fanconi Syndrome
|
|
Fanconi-De Toni Syndrome
|
Lignac-Fanconi Syndrome
|
|
Fanconi Renotubular Syndrome
|
Primary Fanconi Renotubular Syndrome
|
|
De Toni-Debre-Fanconi Syndrome
|
Adult Fanconi Anemia
|
|
Detoni Fanconi Syndrome
|
Fanconi-De-Toni Syndrome
|
|
Primary Fanconi Syndrome
|
Detoni-Debre-Fanconi Syndrome
|
|
Primary Fanconi Renal Syndrome
|
Fanconi Anemia
|
|
Cystinosis, Infantile Nephropathic
|
Fanconi-Bickel Syndrome
|
|
Renal Fanconi Syndrome
|
Lowe-Bickel Syndrome
|
|
|
| Griscelli Syndrome, Type 1 |
|
Griscelli Syndrome Type 1
|
GS1
|
|
Griscelli Syndrome With Neurologic Impairment
|
Partial Albinism And Primary Neurologic Disease Without Hemophagocytic Syndrome
|
|
Griscelli Syndrome, Cutaneous And Neurologic Type
|
Griscelli-Prunieras Syndrome Type 1
|
|
Hypopigmentation-Neurologic Impairment Syndrome
|
Griscelli Syndrome With Neurological Impairment
|
|
Griscelli Syndrome, Cutaneous And Neurological Type
|
Pigmentary Dilution Of The Skin And Hair, The Presence Of Large Clumps Of Pigment In Hair Shafts
|
|
Griscelli Syndrome 1
|
Griscelli Syndrome With Primary Neurologic Impairment
|
|
|
| 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
|
|
|
| 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]
|
|
|
| Secretory Diarrhea |
|
|
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
PFIC2
|
Cholestasis, Progressive Familial Intrahepatic 2
|
|
Progressive Familial Intrahepatic Cholestasis Type 2
|
Progressive Familial Intrahepatic Cholestasis 2
|
|
Bsep Deficiency
|
Recurrent Familial Intrahepatic Cholestasis 2
|
|
Benign Recurrent Intrahepatic Cholestasis 2
|
Severe Abcb11 Deficiency
|
|
Bric2
|
Cholestasis, Benign Recurrent Intrahepatic 2
|
|
Mild Abcb11 Deficiency
|
Cholestasis, Intrahepatic, Familial, Progressive, Type 2
|
|
|
| Osmotic Diarrhea |
|
|
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Familial Intestinal Polyatresia Syndrome
|
Fipa
|
|
Gastrointestinal Defects And Immunodeficiency Syndrome
|
Multiple Gastrointestinal Atresias
|
|
Familial Isolated Pituitary Adenoma
|
Intestinal Atresia, Multiple
|
|
Multiple Intestinal Atresia
|
GIDID1
|
|
Multiple Intestinal Atresia And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency
|
Minat
|
|
Gidid
|
Meddra:10028210
|
|
Familial Isolated Pituitary Adenoma Syndrome
|
Intestinal Atresia Multiple
|
|
Combined Immunodeficiency-Enteropathy Spectrum
|
Cid-Mia/Early-Onset Ibd
|
|
Intestinal Atresia, Multiple And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency
|
Mia
|
|
Gastrointestinal Defect And Immunodeficiency Syndrome
|
Pituitary Adenoma Predisposition
|
|
Pituitary Adenoma, Familial Isolated
|
|
|
| Dyslexia |
|
|
| Alstrom Syndrome |
|
ALMS
|
Alström Syndrome
|
|
Alss
|
Alstrom-Hallgren Syndrome
|
|
Alstroem Syndrome
|
|
|
| Proprotein Convertase 1/3 Deficiency |
|
Obesity Due To Prohormone Convertase I Deficiency
|
Obesity With Impaired Prohormone Processing
|
|
Obesity And Endocrinopathy Due To Impaired Processing Of Prohormones
|
Pci Deficiency
|
|
Proprotein Convertase 1 3 Deficiency
|
Endocrinopathy Due To Proprotein Convertase 1/3 Deficiency
|
|
Proprotein Convertase 1 Deficiency
|
PC1 DEFICIENCY
|
|
|
| Lactase Deficiency, Congenital |
|
Congenital Lactase Deficiency
|
Disaccharide Intolerance Ii
|
|
Congenital Alactasia
|
Congenital Alactasia Syndrome
|
|
Congenital Lactose Intolerance
|
Congenital Lactose Malabsorption
|
|
Hereditary Alactasia
|
Alactasia, Congenital
|
|
Cld
|
COLACD
|
|
Disaccharide Intolerance Type 2
|
Cld - [Congenital Lactase Deficiency]
|
|
Disaccharide Intolerance 2
|
Lactose Intolerance Of Newborn
|
|
Hereditary Lactase Deficiency
|
|
|
| Immunodeficiency 43 |
|
Hypoproteinemia, Hypercatabolic
|
IMD43
|
|
Beta-2-Microglobulin Deficiency
|
B2m Deficiency
|
|
Hypercatabolic Hypoproteinemia
|
|
|
| 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
|
|
|
| Crigler-Najjar Syndrome, Type I |
|
Crigler-Najjar Syndrome
|
Crigler-Najjar Syndrome Type 1
|
|
Bilirubin Udp Glucuronyl Transferase Deficiency
|
Crigler Najjar Syndrome
|
|
Crigler Najjar Syndrome, Type 1
|
Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency
|
|
Bilirubin-Ugt Deficiency
|
Hyperbilirubinemia, Crigler-Najjar Type I
|
|
Hblrcn1
|
Familial Nonhemolytic Unconjugated Hyperbilirubinemia
|
|
Hereditary Unconjugated Hyperbilirubinemia
|
Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 1
|
|
Bilirubin-Ugt Deficiency Type 1
|
Crigler-Najjar Syndrome 1
|
|
CN1
|
Cn-I
|
|
Crigler-Najjar Syndrome Type I
|
Hereditary Unconjugated Hyperbilirubinaemia
|
|
Ugt Deficiency
|
Bilirubin Glucuronosyltransferase Deficiency
|
|
Crigler-Najjar Disease Or Syndrome
|
Deficiency Of Glucuronosyltransferase
|
|
Glucuronyl Transferase Deficiency
|
Glucuronyltransferase Deficiency
|
|
Udp Glucuronyl Transferase Deficiency
|
Cns - [Crigler-Najjar Syndrome]
|
|
Congenital Familial Nonhemolytic Jaundice
|
|
|
| Cystic Fibrosis |
|
Mucoviscidosis
|
CF
|
|
Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis
|
Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis
|
|
Cystic Fibrosis Lung Disease, Modifier Of
|
Cystic Fibrosis Of Pancreas
|
|
Fibrocystic Disease Of Pancreas
|
Cf - [Cystic Fibrosis]
|
|
Cystic Fibrosis Nos
|
Fibrocystic Disease
|
|
Fibrocystic Disease Of The Pancreas
|
Mucoviscidosis Of Pancreas
|
|
Nonproliferative Fibrocystic Disease
|
Pancreatic Cystic Fibrosis
|
|
|
