| 疾病名称 |
别名 |
|
| Epilepsy, Progressive Myoclonic, 9 |
|
EPM9
|
Progressive Myoclonic Epilepsy Type 9
|
|
Pme Type 9
|
Progressive Myoclonic Epilepsy Due To Lmnb2 Deficiency
|
|
Progressive Myoclonus Epilepsy Type 9
|
Epilepsy, Progressive Myoclonic 9
|
|
|
| Microcephaly 27, Primary, Autosomal Dominant |
|
|
| Lipodystrophy, Partial, Acquired |
|
Barraquer-Simons Syndrome
|
Acquired Partial Lipodystrophy
|
|
APLD
|
Lipodystrophy, Partial, Acquired, Susceptibility To
|
|
Apl
|
Progressive Cephalothoracic Lipodystrophy
|
|
Apld, Susceptibility To
|
Lipodystrophy, Cephalothoracic Type
|
|
Lipodystrophy, Partial, Progressive
|
Lipodystophy Partial Progressive
|
|
Lipodystrophy Cephalothoracic Type
|
Lipodystrophy Partial Acquired
|
|
Partial Acquired Lipodystrophy
|
Cephalothoracic Type Lipodystrophy
|
|
Partial Progressive Lipodystrophy
|
Susceptibility To Partial Acquired Lipodystrophy
|
|
|
| Acquired Lipodystrophy |
|
|
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
ADLD
|
Adult-Onset Autosomal Dominant Demyelinating Leukodystrophy
|
|
Leukodystrophy, Adult-Onset, Autosomal Dominant
|
Adult-Onset Autosomal Dominant Leukodystrophy
|
|
Autosomal Dominant Leukodystrophy With Autonomic Disease
|
Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy
|
|
Multiple Sclerosis-Like Disorder
|
Pelizaeus-Merzbacher Disease, Autosomal Dominant Or Late-Onset Type, Formerly
|
|
Autosomal-Dominant Or Late-Onset Type Pelizaeus-Merzbacher Disease
|
Pelizaeus-Merzbacher Disease, Autosomal Dominant Or Late-Onset Type
|
|
Adult-Onset Autosomal Dominant Leukodystrophy With Autonomic Symptoms
|
Lmnb1-Related Adult-Onset Autosomal Dominant Leukodystrophy
|
|
Leukodystrophy, Demyelinating, Autosomal Dominant, Adult-Onset
|
Pelizaeus-Merzbacher Disease Autosomal Dominant
|
|
Pelizaeus-Merzbacher Disease Late-Onset Type
|
Adult Onset Autosomal Dominant Leukodystrophy
|
|
|
| Emery-Dreifuss Muscular Dystrophy |
|
Edmd
|
Emery-Dreifuss Syndrome
|
|
Muscular Dystrophy, Emery-Dreifuss
|
Humeroperoneal Neuromuscular Disease
|
|
Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures
|
Scapuloperoneal Syndrome, X-Linked
|
|
Benign Scapuloperoneal Muscular Dystrophy With Early Contractures
|
Muscular Dystrophy, Emery-Dreifuss Type
|
|
Muscular Dystrophy Emery-Dreifuss
|
Dystrophy, Muscular, Emery-Dreifuss
|
|
Emd - [Emery-Dreifuss Muscular Dystrophy]
|
|
|
| Familial Partial Lipodystrophy |
|
Lipodystrophy, Familial Partial
|
Fpld
|
|
Kobberling-Dunnigan Syndrome
|
Dunnigan Syndrome
|
|
Koberling-Dunnigan Syndrome
|
Dunnigan-Kobberling Syndrome
|
|
Fpl
|
Familial Partial Lipodystrophy, Type 2
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2b1 |
|
Charcot-Marie-Tooth Disease Type 2b1
|
Charcot-Marie-Tooth Disease, Type 2b1
|
|
CMT2B1
|
Autosomal Recessive Axonal Cmt4c1
|
|
Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b1
|
Charcot-Marie-Tooth Disease Neuronal Type 2b1
|
|
Charcot-Marie-Tooth Neuropathy Type 2b1
|
Charcot-Marie-Tooth Disease, Neuronal, Type 2b1
|
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b1
|
Charcot-Marie-Tooth Neuropathy, Type 2b1
|
|
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b1
|
Ar-Cmt2b1
|
|
Charcot-Marie-Tooth Disease 2b1
|
Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B1
|
|
Charcot-Marie-Tooth Disease Axonal Type 2b1
|
|
|
| Lipodystrophy, Familial Partial, Type 2 |
|
FPLD2
|
Lipoatrophic Diabetes
|
|
Familial Partial Lipodystrophy Type 2
|
Familial Partial Lipodystrophy, Dunnigan Type
|
|
Fpl2
|
Lipoatrophic Diabetes Mellitus
|
|
Lipodystrophy, Familial Partial, Dunnigan Type
|
Lipodystrophy, Familial, Of Limbs And Lower Trunk
|
|
Lipodystrophy, Reverse Partial
|
Familial Partial Lipodystrophy Dunnigan Type
|
|
Dunnigan Syndrome
|
Familial Lipodystrophy Of Limbs And Lower Trunk
|
|
Reverse Partial Lipodystrophy
|
Lipodystrophy, Familial Partial, 2
|
|
Generalized Lipoatrophy Associated With Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy And Leukomelanodermic Papules
|
Lipodystrophy Familial Of Limbs And Lower Trunk
|
|
Lipodystrophy Reverse Partial
|
Diabetes Mellitus, Lipoatrophic
|
|
Familial Partial Lipodystrophy, Type 2
|
Familial Generalized Lipodystrophy
|
|
|
| Nonencapsulated Sclerosing Carcinoma |
|
Nonencapsulated Sclerosing Neoplasm
|
Papillary Carcinoma, Diffuse Sclerosing
|
|
|
| Greenberg Dysplasia |
|
Hem Dysplasia
|
Greenberg Skeletal Dysplasia
|
|
Hem Skeletal Dysplasia
|
GRBGD
|
|
Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia
|
Moth-Eaten Skeletal Dysplasia
|
|
Chondrodystrophy, Hydropic And Prenatally Lethal Type
|
Hydrops-Ectopic Calcification-Motheaten Syndrome
|
|
Skeletal Dysplasia, Greenberg Type
|
Autosomal Recessive Lethal Chondrodystrophy With Congenital Hydrops
|
|
Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia
|
Hem
|
|
Hem/Greenberg Dysplasia
|
Hydrops - Ectopic Calcification - Moth-Eaten Skeletal Dysplasia
|
|
|
| Muscular Dystrophy, Congenital, Lmna-Related |
|
Congenital Muscular Dystrophy
|
Congenital Muscular Dystrophy Due To Lmna Mutation
|
|
MDCL
|
L-Cmd
|
|
Lmna-Related Congenital Muscular Dystrophy
|
Muscular Dystrophy, Congenital
|
|
Congenital Muscular Dystrophy Lmna-Related
|
Lmna-Related Cmd
|
|
Cmd
|
Mdc
|
|
Muscular Dystrophy Congenital Lmna-Related
|
Dystrophy, Muscular, Congenital, Lmna-Related
|
|
Dystrophy, Muscular, Congenital
|
Hereditary Muscular Dystrophy
|
|
Congenital Hereditary Muscular Dystrophy
|
Congenital Progressive Muscular Dystrophy
|
|
Hereditary Progressive Muscular Dystrophy
|
|
|
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
EDMD2
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
|
|
Emd2
|
Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant
|
|
Scapuloilioperoneal Atrophy With Cardiopathy
|
Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant
|
|
Hauptmann-Thannhauser Muscular Dystrophy
|
Cardiomyopathy, Dilated, With Quadriceps Myopathy
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 2
|
Muscular Dystrophy, Limb-Girdle, Type 1b
|
|
Muscular Dystrophy, Limb-Girdle, Type 1b, Formerly
|
Lgmd1b, Formerly
|
|
Muscular Dystrophy, Proximal, Type 1b, Formerly
|
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b
|
|
Lgmd1b
|
Limb-Girdle Muscular Dystrophy 1b
|
|
Muscular Dystrophy, Proximal, Type 1b
|
Muscular Dystrophy With Early Contractures And Cardiomyopathy Autosomal Dominant
|
|
|
| Reynolds Syndrome |
|
Primary Biliary Cirrhosis, Scleroderma, Raynaud Disease, And Telangiectasia
|
Primary Biliary Cirrhosis And Systemic Scleroderma
|
|
REYNS
|
Primary Biliary Cirrhosis Scleroderma Raynaud Disease And Telangiectasia
|
|
|
| Pelger-Huet Anomaly |
|
PHA
|
Pelger-Huët Anomaly
|
|
Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy And Skeletal Abnormalities
|
Pelger Huet Anomaly
|
|
Pelger-Huet Nuclear Anomaly
|
|
|
| Buschke-Ollendorff Syndrome |
|
BOS
|
Dermatoosteopoikilosis
|
|
Dermatofibrosis Lenticularis Disseminata With Osteopoikilosis
|
Osteopathia Condensans Disseminata
|
|
Dermatofibrosis Lenticularis Disseminata
|
Disseminated Dermatofibrosis With Osteopoikilosis
|
|
Dermatofibrosis, Disseminated, With Osteopoikilosis
|
Osteopoikilosis With Or Without Melorheostosis
|
|
Dermatofibrosis, Disseminated With Osteopoikilosis
|
Dermatofibrosis Disseminata Lenticularis
|
|
Isolated Osteopoikilosis
|
Osteopoikilosis, Isolated
|
|
|
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
EDMD1
|
Emd1
|
|
Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures
|
X-Linked Emery-Dreifuss Muscular Dystrophy 1
|
|
Humeroperoneal Neuromuscular Disease
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
|
Scapuloperoneal Syndrome, X-Linked, Formerly
|
Humeroperoneal Neuromuscular Disease, Formerly
|
|
Scapuloperoneal Syndrome, X-Linked
|
Muscular Dystrophy Tardive Dreifuss-Emery Type With Contractures
|
|
Scapuloperoneal Syndrome X-Linked
|
X-Edmd
|
|
Dystrophy, Muscular, Emery-Dreifuss, Type 1, X-Linked
|
|
|
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
EDMD3
|
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 3
|
|
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
|
Emery-Dreifuss Muscular Dystrophy Atypical Autosomal Recessive
|
|
Dystrophy, Muscular, Emery-Dreifuss, Type 3, Autosomal Recessive
|
Emery-Dreifuss Muscular Dystrophy 3
|
|
|
| Axonal Neuropathy |
|
|
| Cardiomyopathy, Dilated, 1h |
|
Dilated Cardiomyopathy 1h
|
Dilated Cardiomyopathy With Conduction Defect
|
|
CMD1H
|
Cardiomyopathy, Dilated, With Conduction Defect
|
|
|
| Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant |
|
EDMD4
|
Emery-Dreifuss Muscular Dystrophy 4 With Variable Features
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 4
|
Emd4
|
|
Dystrophy, Muscular, Emery-Dreifuss, Type 4, Autosomal Dominant
|
Emery-Dreifuss Muscular Dystrophy 4
|
|
|
| Complement Deficiency |
|
Complement Deficiency Disease
|
Hereditary Complement Deficiency Diseases
|
|
|
| Muscular Dystrophy |
|
Muscular Dystrophies
|
Congenital Md
|
|
Congenital Muscular Dystrophy
|
Cmd
|
|
Mdc
|
Dystrophy, Muscular
|
|
Gower'S Muscular Dystrophy
|
Progressive Musclular Dystrophy
|
|
Pseudohypertrophic Atrophy
|
Pseudohypertrophic Muscle Paralysis
|
|
Pseudohypertrophic Muscular Atrophy
|
Pseudohypertrophic Muscular Dystrophy
|
|
Pseudohypertrophic Paralysis
|
Pseudomuscular Hypertrophy
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Osteopoikilosis |
|
Osteopathia Condensans Disseminata
|
Spotted Bones
|
|
Dermatofibrosis Lenticularis Disseminata
|
|
|
| Epilepsy |
|
Epilepsy Syndrome
|
Epileptic Syndrome
|
|
Epilepsies
|
Symptomatic Epilepsies
|
|
Post Traumatic Epilepsy
|
Traumatic Epilepsy
|
|
Traumatic Epileptic
|
Epilepsy Due To Hippocampal Sclerosis
|
|
Epilepsy With Ammon'S Horn Sclerosis
|
Epilepsy Due To Cortical Dysplasia
|
|
Epilepsy Due To Neuronal Migration Disorders
|
|
|
| Gastric Cancer |
|
Stomach Cancer
|
Gastric Carcinoma
|
|
Stomach Carcinoma
|
Gastric Cancer, Somatic
|
|
Gastric Neoplasm
|
Carcinoma Of Stomach
|
|
Stomach Neoplasms
|
Malignant Neoplasm Of Stomach
|
|
Gastric Cancer Risk After H. Pylori Infection
|
Cancer Of The Stomach
|
|
Adult Stomach Cancer
|
Adult Stomach Carcinoma
|
|
GASC
|
Gastric Cancer Intestinal
|
|
Gastric Cancers
|
Gastric Carcinomas
|
|
Cancer, Gastric
|
Stomach Neoplasm
|
|
Malignant Neoplasm Of Body Of Stomach
|
Malignant Tumor Of Lesser Curve Of Stomach
|
|
Gastrocarcinoma Of Unspecified Site
|
Leather Bottle Stomach
|
|
Carcinoma Of Fundus Of Stomach
|
Cancer Of Fundus Of Stomach
|
|
Primary Malignant Neoplasm Of Body Of Stomach
|
Cancer Of Body Of Stomach
|
|
Primary Malignant Neoplasm Of Pyloric Antrum
|
Pyloric Antrum Cancer
|
|
Malignant Tumour Of Stomach
|
|
|
| Hutchinson-Gilford Progeria Syndrome |
|
Progeria
|
HGPS
|
|
Hutchinson-Gilford Syndrome
|
Hutchinson-Gilford Progeria
|
|
Hutchinson Gilford Syndrome
|
Hutchinson Gilford Progeria Syndrome
|
|
Hutchinson-Gilford Disease
|
Progeria Of Childhood
|
|
Hutchinson-Gilford-Progeria Syndrome
|
|
|
| Cardiomyopathy, Dilated, 1a |
|
Dilated Cardiomyopathy 1a
|
Cdcd1
|
|
CMD1A
|
Cardiomyopathy, Familial Idiopathic
|
|
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
|
Cardiomyopathy, Dilated, With Conduction Defect 1
|
|
Cardiomyopathy, Idiopathic Dilated
|
Cardiomyopathy, Congestive
|
|
Dilated Cardiomyopathy With Conduction Defect 1
|
Cardiomyopathy Dilated With Conduction Defect Type 1
|
|
Cardiomyopathy, Dilated 1a
|
Cardiomyopathy Dilated With Conduction Defect 1
|
|
Cardiomyopathy, Dilated, Type 1a
|
|
|
| Hyperoxaluria, Primary, Type I |
|
Primary Hyperoxaluria Type 1
|
HP1
|
|
Glycolic Aciduria
|
Alanine-Glyoxylate Aminotransferase Deficiency
|
|
Hepatic Agt Deficiency
|
Oxalosis I
|
|
Primary Hyperoxaluria, Type I
|
Serine:Pyruvate Aminotransferase Deficiency
|
|
Hyperoxaluria, Primary, Type 1
|
Peroxisomal Alanine-Glyoxylate Aminotransferase Deficiency
|
|
Peroxisomal Alanine Glyoxylate Aminotransferase Deficiency
|
Serine Pyruvate Aminotransferase Deficiency
|
|
Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency
|
Oxalosis 1
|
|
Hyperoxaluria Primary 1
|
Hyperoxaluria Primary Type I
|
|
Ph1
|
Primary Hyperoxaluria Type I
|
|
Oxalosis Type 1
|
2-Oxoglutarate Glyoxylate Carboligase Deficiency
|
|
|
| Muscle Tissue Disease |
|
|
| Primary Hyperoxaluria |
|
Hyperoxaluria
|
Hyperoxaluria, Primary
|
|
Oxalosis
|
Primary Oxalosis
|
|
Congenital Oxaluria
|
D-Glycerate Dehydrogenase Deficiency
|
|
Glyceric Aciduria
|
Glycolic Aciduria
|
|
Hepatic Agt Deficiency
|
Oxaluria, Primary
|
|
Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency
|
Primary Oxaluria
|
|
Hyperoxaluria Primary
|
Primary Hyperoxaluria Type 2
|
|
Primary Hyperoxaluria, Type I
|
|
|
| Muscular Disease |
|
|
| Limb-Girdle Muscular Dystrophy |
|
Lgmd
|
Limb Girdle Muscular Dystrophy
|
|
Muscular Dystrophies, Limb-Girdle
|
Erb'S Muscular Dystrophy
|
|
Leyden-Mbius Muscular Dystrophy
|
Limb-Girdle Syndrome
|
|
Myopathic Limb-Girdle Syndrome
|
Limb Girdle
|
|
Muscular Dystrophy Limb-Girdle
|
Dystrophy, Muscular, Limb-Girdle
|
|
Lgmd - [Limb-Girdle Muscular Dystrophy]
|
Limb Girdle Muscle Dystrophy
|
|
Limb-Girdle Myopathy
|
|
|
| Progressive Myoclonus Epilepsy |
|
Pme
|
Progressive Myoclonic Epilepsy
|
|
Myoclonic Epilepsies, Progressive
|
Unverricht-Lundborg Syndrome
|
|
|
| Congenital Generalized Lipodystrophy |
|
Berardinelli-Seip Congenital Lipodystrophy
|
Berardinelli-Seip Syndrome
|
|
Brunzell Syndrome
|
Bscl
|
|
Generalized Lipodystrophy
|
Lipodystrophy, Congenital Generalized
|
|
Seip Syndrome
|
Total Lipodystrophy
|
|
Cgl
|
Lipoatrophic Diabetes
|
|
Lipodystrophy, Generalized, Congenital
|
Familial Generalized Lipodystrophy
|
|
Congenital Generalized Lipodystrophy Type 2
|
Lipoatrophic Diabetes Mellitus
|
|
Familial Partial Lipodystrophy, Type 2
|
|
|
| Neuromuscular Disease |
|
Neuromuscular Diseases
|
Neuromuscular Disorders
|
|
Neuromuscular Disorder
|
|
|
| Dilated Cardiomyopathy |
|
Familial Dilated Cardiomyopathy
|
Primary Dilated Cardiomyopathy
|
|
Idiopathic Dilated Cardiomyopathy
|
Congestive Cardiomyopathy
|
|
Idiopathic Dilation Cardiomyopathy
|
Primary Familial Dilated Cardiomyopathy
|
|
Cardiomyopathy, Dilated
|
DCM
|
|
Cardiomyopathy, Familial Dilated
|
Dilated Cardiomyopathy, Familial
|
|
Hypokinetic Dilated Cardiomyopathy, Familial
|
Familial Idiopathic Cardiomyopathy
|
|
Fdc
|
Cardiomyopathy, Familial Idiopathic
|
|
Idiopathic Cardiomegaly
|
Dilated Congestive Cardiomyopathy
|
|
Chronic Dilated Cardiomyopathy
|
Ccm - [Congestive Cardiomyopathy]
|
|
Cocm - [Congestive Cardiomyopathy]
|
Dcm - [Dilated Cardiomyopathy]
|
|
Dilated-Hypokinetic Cardiomyopathy
|
Congestive Idiopathic Cardiomyopathy
|
|
Primary Idiopathic Dilated Cardiomyopathy
|
|
|
| Charcot-Marie-Tooth Disease |
|
Cmt
|
Hmsn
|
|
Hereditary Motor And Sensory Neuropathy
|
Pma
|
|
Cmt - Charcot-Marie-Tooth Disease
|
Charcot Marie Tooth Disease
|
|
Charcot-Marie-Tooth Hereditary Neuropathy
|
Charcot-Marie-Tooth Syndrome
|
|
Peroneal Muscular Atrophy
|
Hereditary Motor And Sensory Neuropathies
|
|
|
| Myopathy |
|
Muscular Diseases
|
Myopathies
|
|
|
