| 疾病名称 |
别名 |
|
| Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
Hyperphosphatasia With Intellectual Disability Syndrome 6
|
HPMRS6
|
|
Glycosylphosphatidylinositol Biosynthesis Defect 12
|
Gpibd12
|
|
Hyperphosphatasia With Mental Retardation Syndrome, Type 6
|
|
|
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Mabry Syndrome
|
Hyperphosphatasia With Mental Retardation
|
|
|
| Mitochondrial Disease |
|
Mitochondrial Diseases
|
Mitochondrial Disorder
|
|
|
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
MCAHS4
|
Glycosylphosphatidylinositol Biosynthesis Defect 19
|
|
Gpibd19
|
Developmental And Epileptic Encephalopathy 77
|
|
Epileptic Encephalopathy, Early Infantile, 77
|
Dee77
|
|
Eiee77
|
Developmental And Epileptic Encephalopathy, 77
|
|
Early Infantile Epileptic Encephalopathy 77
|
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome-4
|
|
|
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Congenital Muscular Dystrophy With Cataracts And Intellectual Disability
|
MDCCAID
|
|
|
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
MCAHS2
|
Glycosylphosphatidylinositol Biosynthesis Defect 4
|
|
Developmental And Epileptic Encephalopathy 20
|
Epileptic Encephalopathy, Early Infantile, 20
|
|
Eiee20
|
Gpibd4
|
|
Early Infantile Epileptic Encephalopathy 20
|
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 2
|
|
Mcahs Type 2
|
Dee20
|
|
Fccs
|
Ferro-Cerebro-Cutaneous Syndrome
|
|
Multiple Congenital Anomalies, Hypotonia, Seizures Syndrome, Type 2
|
|
|
| Polymicrogyria, Bilateral Temporooccipital |
|
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
|
BTOP
|
|
Bilateral Temporooccipital Polymicrogyria
|
Polymicrogyria
|
|
|
| Anterior Segment Dysgenesis 4 |
|
Iridogoniodysgenesis Syndrome
|
Iridogoniodysgenesis, Type 2
|
|
Irid2
|
Iridogoniodysgenesis Type 2
|
|
ASGD4
|
Igds
|
|
Iris Hypoplasia With Early-Onset Glaucoma, Autosomal Dominant
|
Ihga
|
|
Irid 1
|
Irid 2
|
|
Iridogoniodysgenesis Type 1
|
Igds2
|
|
Iridogoniodysgenesis Syndrome 2
|
Iridogoniodysgenesis, Type 1
|
|
|
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
MCAHS3
|
Glycosylphosphatidylinositol Biosynthesis Defect 7
|
|
Gpibd7
|
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
|
|
Congenital Disorder Of Glycosylation Due To Pigt Deficiency
|
Mcahs Type 3
|
|
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 3
|
Pigt-Cdg
|
|
Multiple Congenital Anomalies, Hypotonia, Seizures Syndrome, Type 3
|
|
|
| Developmental And Epileptic Encephalopathy 55 |
|
DEE55
|
Glycosylphosphatidylinositol Biosynthesis Defect 14
|
|
Gpibd14
|
Epileptic Encephalopathy, Early Infantile, 55
|
|
Eiee55
|
Developmental And Epileptic Encephalopathy, 55
|
|
Early Infantile Epileptic Encephalopathy 55
|
Encephalopathy, Epileptic, Early Infantile, Type 55
|
|
|
| Congenital Disorder Of Glycosylation, Type Iiq |
|
CDG2Q
|
Cdg Iiq
|
|
Cdgiiq
|
Congenital Disorder Of Glycosylation Type Iiq
|
|
Cog2-Cdg
|
Cog2-Related Congenital Disorder Of Glycosylation
|
|
Cdgiidq
|
Congenital Disorder Of Glycosylation 2q
|
|
Cdg-Iiq
|
|
|
| Developmental And Epileptic Encephalopathy 15 |
|
DEE15
|
Epileptic Encephalopathy, Early Infantile, 15
|
|
Eiee15
|
Developmental And Epileptic Encephalopathy, 15
|
|
Early Infantile Epileptic Encephalopathy 15
|
Encephalopathy, Epileptic, Early Infantile, Type 15
|
|
Early Infantile Epileptic Encephalopathy With Suppression Bursts
|
X-Linked Infantile Spasm Syndrome
|
|
|
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome |
|
Chime Syndrome
|
Zunich Neuroectodermal Syndrome
|
|
Zunich-Kaye Syndrome
|
CHIME
|
|
Glycosylphosphatidylinositol Biosynthesis Defect 5
|
Gpibd5
|
|
Coloboma-Congenital Heart Disease-Ichthyosiform Dermatosis-Intellectual Disability-Ear Anomalies Syndrome
|
Congenital Disorder Of Glycosylation Due To Pigl Deficiency
|
|
Neuroectodermal Dysplasia, Chime Type
|
Neuroectodermal Syndrome, Zunich Type
|
|
Pigl-Cdg
|
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability And Ear Anomalies Syndrome
|
|
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, And Ear Anomalies Syndrome
|
|
|
| Bleeding Disorder, Platelet-Type, 9 |
|
Platelet-Type Bleeding Disorder 9
|
Glycoprotein Ia Deficiency
|
|
BDPLT9
|
Gp Ia Deficiency
|
|
Collagen Platelet Receptor Deficiency
|
Bleeding Diathesis Due To Integrin Alpha2-Beta1 Deficiency
|
|
Bleeding Disorder, Platelet Type 9
|
|
|
| Developmental And Epileptic Encephalopathy 36 |
|
Congenital Disorder Of Glycosylation Type I
|
Epileptic Encephalopathy, Early Infantile, 36
|
|
Congenital Disorder Of Glycosylation, Type Is
|
Cdg1s
|
|
Congenital Disorder Of Glycosylation, Type Ie
|
CDG1E
|
|
Congenital Disorder Of Glycosylation Type 1e
|
DEE36
|
|
Eiee36
|
Cdg Is
|
|
Cdgis
|
Congenital Disorder Of Glycosylation Ie
|
|
Congenital Disorder Of Glycosylation 1e
|
Cdg-Is
|
|
Congenital Disorder Of Glycosylation Type Is
|
Developmental And Epileptic Encephalopathy, 36
|
|
Cdg Ie
|
Cdgie
|
|
Early Infantile Epileptic Encephalopathy 36
|
Alg13-Cdg
|
|
Cdg Syndrome Type Is
|
Congenital Disorder Of Glycosylation Type 1s
|
|
Dpm1-Cdg
|
Cdg Syndrome Type Ie
|
|
Cdg-Ie
|
Carbohydrate Deficient Glycoprotein Syndrome Type Ie
|
|
Congenital Disorder Of Glycosylation Type Ie
|
Dol-P-Mannosyltransferase Deficiency
|
|
Congenital Disorder Of Glycosylation 1s
|
Glycosylation, Congenital Disorder Of, Type I
|
|
Glycosylation, Congenital Disorder Of, Type Ie
|
Congenital Disorder Of Glycosylation Type 1a
|
|
Congenital Disorder Of Glycosylation, Type Iu
|
|
|
| Congenital Disorder Of Glycosylation, Type Iij |
|
CDG2J
|
Congenital Disorder Of Glycosylation Type Iij
|
|
Cdg Iij
|
Cdgiij
|
|
Carbohydrate Deficient Glycoprotein Syndrome Type Iij
|
Cdg Syndrome Type Iij
|
|
Congenital Disorder Of Glycosylation Type 2j
|
Cog4-Cdg
|
|
Cdg-Iij
|
Cdgiidj
|
|
Congenital Disorder Of Glycosylation 2j
|
Glycosylation, Congenital Disorder Of, Type Iij
|
|
|
| B-Cell Adult Acute Lymphocytic Leukemia |
|
Adult B Acute Lymphoblastic Leukemia
|
Adult B Acute Lymphoblastic Leukaemia
|
|
Adult B-Cell Acute Lymphoblastic Leukaemia
|
Adult B-Cell Acute Lymphoblastic Leukemia
|
|
Adult B-Cell Lymphocytic Leukaemia
|
Adult B-Cell Lymphocytic Leukemia
|
|
Adult B-Lymphoblastic Leukaemia
|
Adult B-Lymphoblastic Leukemia
|
|
B-Cell Adult Acute Lymphocytic Leukaemia
|
B-Cell Adult Acute Lymphoblastic Leukemia
|
|
|
| Developmental And Epileptic Encephalopathy 80 |
|
DEE80
|
Glycosylphosphatidylinositol Biosynthesis Defect 20
|
|
Gpibd20
|
Epileptic Encephalopathy, Early Infantile, 80
|
|
Eiee80
|
Developmental And Epileptic Encephalopathy, 80
|
|
Early Infantile Epileptic Encephalopathy 80
|
|
|
| Hemometra |
|
|
| Burkitt Lymphoma |
|
Burkitt'S Lymphoma
|
BL
|
|
Burkitt Lymphoma, Somatic
|
Burkitt Lymphoma/Leukaemia
|
|
Burkitt'S Tumor
|
Burkitt'S Tumor Or Lymphoma
|
|
Malignant Lymphoma, Burkitt'S Type
|
Small Non-Cleaved Cell Lymphoma, Burkitt'S Type
|
|
Small Non-Cleaved Cell Lymphoma
|
Burkitt Tumor
|
|
Burkitts Lymphoma
|
Lymphoma, Small Noncleaved-Cell
|
|
Burkitt Tumour
|
Diffuse Small Noncleaved Malignant Burkitt Lymphoma
|
|
Malignant Burkitt Lymphoma
|
“Burkitt-Like” Lymphoma
|
|
Undifferentiated Burkitt Lymphoma
|
Small Noncleaved Cell Burkitt Lymphoma
|
|
|
| Wrinkly Skin Syndrome |
|
WSS
|
Wrinkled Skin Syndrome
|
|
|
| Congenital Disorder Of Glycosylation, Type In |
|
Congenital Disorder Of Glycosylation
|
CDG1N
|
|
Congenital Disorders Of Glycosylation
|
Cdg In
|
|
Cdgin
|
Congenital Disorder Of Glycosylation 1n
|
|
Carbohydrate-Deficient Glycoprotein Syndrome
|
Cdg
|
|
Rft1-Cdg
|
Cdg-In
|
|
Congenital Disorder Of Glycosylation Type In
|
Carbohydrate Deficient Glycoprotein Syndrome
|
|
Cdg Syndrome
|
Congenital Disorder Of Glycosylation In
|
|
Carbohydrate-Deficient Glycoprotein Syndromes
|
Cdg Syndrome Type In
|
|
Carbohydrate Deficient Glycoprotein Syndrome Type In
|
Congenital Disorder Of Glycosylation Type 1n
|
|
Man5glcnac2-Pp-Dol Flippase Deficiency
|
Glycosylation, Congenital Disorder Of
|
|
Glycosylation, Congenital Disorder Of, Type In
|
|
|
| Early Infantile Epileptic Encephalopathy |
|
Early Infantile Epileptic Encephalopathy With Burst-Suppression
|
Early Infantile Epileptic Encephalopathy With Suppression Bursts
|
|
Eiee
|
Early Infantile Epileptic Encephalopathy With Suppression-Bursts
|
|
Ohtahara Syndrome
|
Encephalopathy, Epileptic, Early Infantile
|
|
|
| West Syndrome |
|
Infantile Spasms
|
Infantile Spasms Syndrome
|
|
Infantile Spasm
|
X-Linked Infantile Spasm Syndrome
|
|
X-Linked Infantile Spasms
|
Epileptic Encephalopathy, Early Infantile, 1
|
|
Is
|
Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg
|
|
West'S Syndrome
|
Spasms, Infantile
|
|
Is -[Infantile Spasm]
|
Salaam Spasm
|
|
Salaam Tic
|
|
|
