| 疾病名称 |
别名 |
|
| Muscular Dystrophy-Dystroglycanopathy , Type B, 1 |
|
MDDGB1
|
Muscular Dystrophy-Dystroglycanopathy , Type B1
|
|
Muscular Dystrophy, Congenital, Pomt1-Related
|
Muscular Dystrophy-Dystroglycanopathy Type B1
|
|
Cmd Due To Dystroglycanopathy
|
Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B1
|
|
Muscular Dystrophy Congenital Pomt1-Related
|
Muscular Dystrophy-Dystroglycanopathy
|
|
Dystrophy, Muscular, Dystroglycanopathy , Type B1
|
|
|
| Muscle Tissue Disease |
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type B, 6 |
|
Muscular Dystrophy-Dystroglycanopathy Type B6
|
MDDGB6
|
|
Mdc1d
|
Muscular Dystrophy, Congenital, Type 1d
|
|
Congenital Muscular Dystrophy Type 1d
|
Dystrophy, Muscular, Dystroglycanopathy , Type B6
|
|
Muscular Dystrophy, Congenital, Large-Related
|
Congenital Muscular Dystrophy Large-Related
|
|
Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B6
|
Muscular Dystrophy Large-Related
|
|
|
| Kidney Fibrosarcoma |
|
Fibrosarcoma Of The Kidney
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 4 |
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2m
|
Lgmd2m
|
|
MDDGC4
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 13
|
|
Lgmdr13
|
Muscular Dystrophy, Limb-Girdle, Type 2m
|
|
Muscular Dystrophy-Dystroglycanopathy Type C 4
|
Fukutin-Related Limb-Girdle Muscular Dystrophy R13
|
|
Autosomal Recessive Lgmd Type 2m
|
Fukutin-Related Lgmd R13
|
|
Lgmd Type 2m
|
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C4
|
|
Limb-Girdle Muscular Dystrophy Type 2m
|
Mdgd4c
|
|
Muscular Dystrophy Due To Defective Glycosylation Of Dystroglycan 4c
|
Dystrophy, Muscular, Limb-Girdle, Type 2m
|
|
|
| Congenital Muscular Dystrophy-Dystroglycanopathy Type A |
|
Congenital Muscular Alpha-Dystroglycanopathy With Brain And Eye Anomalies
|
Mddga
|
|
Klissencephaly Type 2 With Muscular And Ocular Involvement
|
Lissencephaly Type 2 With Muscular And Ocular Involvement
|
|
|
| Congenital Disorder Of Glycosylation, Type Iia |
|
CDG2A
|
Congenital Disorder Of Glycosylation Type Iia
|
|
Cdg Iia
|
Cdgiia
|
|
Congenital Disorder Of Glycosylation Type 2a
|
Alkuraya Syndrome
|
|
Mental Retardation, Growth Retardation, Prominent Columella, And Open Mouth
|
Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii
|
|
Mgat2-Cdg
|
Cdg-Iia
|
|
Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii, Formerly
|
Cdgs2, Formerly
|
|
Cdgs2
|
Cdg Syndrome Type Iia
|
|
Carbohydrate Deficient Glycoprotein Syndrome Type Iia
|
N-Acetylglucosaminyltransferase 2 Deficiency
|
|
Congenital Disorder Of Glycosylation 2a
|
Carbohydrate-Deficient Glycoprotein Syndrome Type Ii
|
|
Cdgs Type Ii
|
Carbohydrate-Deficient Glycoprotein Syndrome Type 2
|
|
Glycosylation, Congenital Disorder Of, Type Iia
|
|
|
| Muscular Disease |
|
|
| Physical Disorder |
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type B, 5 |
|
Mdc1c
|
Muscular Dystrophy-Dystroglycanopathy Type B5
|
|
MDDGB5
|
Muscular Dystrophy, Congenital, 1c
|
|
Muscular Dystrophy, Congenital, Fkrp-Related
|
Congenital Muscular Dystrophy 1c
|
|
Fkrp-Related Congenital Muscular Dystrophy
|
Muscular Dystrophy-Dystroglycanopathy Congenital With Or Without Impaired Intellectual Development B5
|
|
Muscular Dystrophy Congenital Type 1c
|
Muscular Dystrophy Fkrp-Related
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 5 |
|
Lgmd2i
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i
|
|
MDDGC5
|
Limb-Girdle Muscular Dystrophy Due To Fkrp Deficiency
|
|
Limb-Girdle Muscular Dystrophy Type 2i
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 9
|
|
Lgmdr9
|
Muscular Dystrophy, Limb-Girdle, Type 2i
|
|
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Frkp-Related
|
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
|
|
Fkrp-Related Lgmd R9
|
Lgmd Due To Fkrp Deficiency
|
|
Lgmd Type 2i
|
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Frkp-Related
|
|
Muscular Dystrophy Limb-Girdle Type 2i
|
Muscular Dystrophy-Dystroglycanopathy Type C 5
|
|
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C5
|
Dystrophy, Muscular, Limb-Girdle, Type 2i
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type A, 4 |
|
Fukuyama Congenital Muscular Dystrophy
|
Fcmd
|
|
MDDGA4
|
Fukuyama Type Congenital Muscular Dystrophy
|
|
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fktn-Related
|
Cerebromuscular Dystrophy, Fukuyama Type
|
|
Fukuyama Cmd
|
Fukuyama Muscular Dystrophy
|
|
Fukuyama Syndrome
|
Muscular Dystrophy, Congenital Progressive, With Mental Retardation
|
|
Muscular Dystrophy, Congenital, Fukuyama Type
|
Muscular Dystrophy, Congenital, With Central Nervous System Involvement
|
|
Polymicrogyria With Muscular Dystrophy
|
Congenital Muscular Dystrophy, Fukuyama Type
|
|
Fktn-Related Congenital Muscular Dystrophy
|
Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A4
|
|
Cerebromuscular Dystrophy Fukuyama Type
|
Congenital Muscular Dystrophy Fukuyama Type
|
|
Micropolygyria With Muscular Dystrophy
|
Muscle-Eye-Brain Disease Fktn-Related
|
|
Walker-Warburg Syndrome Fktn-Related
|
|
|
| Dowling-Degos Disease |
|
Reticular Pigment Anomaly Of Flexures
|
Dark Dot Disease
|
|
Reticulate Acropigmentation Of Kitamura
|
Dowling-Degos Kitamura Disease
|
|
Kitamura Reticulate Acropigmentation
|
Ddd
|
|
Dowling-Degos-Kitamura Disease
|
Reticular Pigmented Anomaly Of Flexures
|
|
|
| Nemaline Myopathy 11, Autosomal Recessive |
|
NEM11
|
Nemaline Myopathy 11
|
|
|
| Cardiomyopathy, Dilated, 1kk |
|
Cardiomyopathy, Familial Restrictive, 4
|
Dilated Cardiomyopathy 1kk
|
|
CMD1KK
|
Cardiomyopathy, Hypertrophic, 22
|
|
Cardiomyopathy, Dilated 1kk
|
Cardiomyopathy, Familial Hypertrophic 22
|
|
CMH22
|
Cardiomyopathy, Familial Restrictive 4
|
|
RCM4
|
Familial Hypertrophic Cardiomyopathy 22
|
|
Cardiomyopathy, Dilated, Type 1kk
|
Cardiomyopathy, Familial Hypertrophic, 22
|
|
|
| Hydrophthalmos |
|
|
| Walker-Warburg Syndrome |
|
Hard Syndrome
|
Walker-Warburg Congenital Muscular Dystrophy
|
|
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome
|
Cod-Md Syndrome
|
|
Chemke Syndrome
|
Hydrocephalus, Agyria And Retinal Dysplasia
|
|
Cerebroocular Dysgenesis
|
Cerebroocular Dysplasia Muscular Dystrophy Syndrome
|
|
Hard +/- E Syndrome
|
Pagon Syndrome
|
|
Warburg Syndrome
|
Hydrocephalus, Agyria, And Retinal Dysplasia
|
|
Mddga
|
Muscular Dystrophy-Dystroglycanopathy , Type A
|
|
Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A
|
Hydrocephalus-Agyria-Retinal Dysplasia Syndrome
|
|
Wws
|
Dystrophy, Muscular, Dystroglycanopathy, Type A
|
|
|
| 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
|
|
|
| Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic Cardiomyopathy 9
|
CMH9
|
|
Cardiomyopathy, Familial Hypertrophic 9
|
Cardiomyopathy, Hypertrophic, Familial, Type 9
|
|
|
| Rigid Spine Muscular Dystrophy 1 |
|
Rigid Spine Syndrome
|
RSMD1
|
|
Rss
|
Mdrs1
|
|
Eichsfeld Type Congenital Muscular Dystrophy
|
Desmin-Related Myopathy With Mallory Bodies
|
|
Classic Multiminicore Myopathy
|
Sepn1-Related Myopathy
|
|
Multicore Myopathy, Severe Classic Form
|
Minicore Myopathy, Severe Classic Form
|
|
Multiminicore Disease, Severe Classic Form
|
Muscular Dystrophy, Rigid Spine, 1
|
|
Classic Mmd
|
Classic Multiminicore Disease
|
|
Congenital Merosin-Positive Muscular Dystrophy With Early Spine Rigidity
|
Desmin-Related Myopathy With Mallory Body-Like Inclusions
|
|
Early-Onset Desmin-Related Myopathy
|
Myopathy, Sepn1-Related
|
|
Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity
|
Muscular Dystrophy, Congenital, Eichsfeld Type
|
|
Severe Classic Form Minicore Myopathy
|
Severe Classic Form Multicore Myopathy
|
|
Severe Classic Form Multiminicore Disease
|
Desmin-Related Myopathies With Mallory Bodies
|
|
Muscular Dystrophy, Congenital, Merosin Positive With Early Spine Rigidity
|
Rigid Spine Muscular Dystrophy-1
|
|
Rigid Spine Congenital Muscular Dystrophy
|
Congenital Muscular Dystrophy Eichsfeld Type
|
|
Congenital Muscular Dystrophy Merosin-Positive With Early Spine Rigidity
|
Minicore Myopathy Severe Classic Form
|
|
Multicore Myopathy Severe Classic Form
|
Multiminicore Disease Severe Classic Form
|
|
Dystrophy, Muscular, Rigid Spine, Type 1
|
|
|
| Glaucoma 3, Primary Congenital, A |
|
Buphthalmos
|
Glaucoma, Congenital
|
|
Congenital Glaucoma
|
Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, Or Adult Onset
|
|
GLC3A
|
Glc3
|
|
Buphthalmia
|
Primary Congenital Glaucoma
|
|
Glaucoma, Primary Open Angle, Juvenile-Onset
|
Simple Buphthalmos
|
|
Buphthalmus
|
Glaucoma, Primary Open Angle, Adult-Onset
|
|
Primary Congenital Glaucoma 3a
|
Primary Infantile Glaucoma Type 3a
|
|
Glaucoma 3a, Primary Congenital
|
Glaucoma, Congenital, Primary, Type 3a
|
|
Hydrophthalmos
|
Cystic Eyeball
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy |
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
|
|
|
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
EMARDD
|
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset, Mild Variant
|
|
Early-Onset Myopathy-Areflexia-Respiratory Distress-Dysphagia Syndrome
|
Early-Onset Myopathy, Areflexia, Respiratory Distress And Dysphagia
|
|
Myopathy, Early-Onset, Areflexia, Respiratory Distress, And Dysphagia
|
|
|
| Cerebral Degeneration |
|
Brain Degeneration
|
Degenerative Brain Disorder
|
|
|
| Communicating Hydrocephalus |
|
Acquired Communicating Hydrocephalus
|
|
|
| Retinal Arteries, Tortuosity Of |
|
Retinal Arterial Tortuosity
|
Retinal Hemorrhage With Vascular Tortuosity
|
|
RATOR
|
Tortuosity Of Retinal Arteries
|
|
Retinal Arteriolar Tortuosity
|
Familial Isolated Retinal Arterial Tortuosity
|
|
Tortuosity, Arteries, Retinal
|
|
|
| Carey-Fineman-Ziter Syndrome 1 |
|
Carey-Fineman-Ziter Syndrome
|
CFZS
|
|
Congenital Nonprogressive Myopathy With Moebius And Robin Sequences
|
Myopathy, Congenital Nonprogressive, With Moebius Sequence And Robin Sequence
|
|
Cfz Syndrome
|
Carey Fineman Ziter Syndrome
|
|
Myopathy, Congenital Nonprogressive With Moebius And Robin Sequences
|
Myopathy-Moebius-Robin Syndrome
|
|
CFZS1
|
Moebius Sequence, Robin Complex, And Hypotonia
|
|
Congenital Non-Progressive Myopathy With Moebius And Robin Sequences
|
|
|
| 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
|
|
|
| Congenital Toxoplasmosis |
|
Toxoplasmosis, Congenital
|
Mother-To-Child Transmission Of Toxoplasmosis
|
|
Toxoplasma Embryofetopathy
|
Toxoplasma Embryopathy
|
|
Toxoplasmosis - Congen.
|
Toxoplasmosis Congenital
|
|
|
| Syndromic X-Linked Intellectual Disability Siderius Type |
|
Mrxssd
|
Siderius-Hamel Syndrome
|
|
Siderius X-Linked Mental Retardation Syndrome
|
|
|
| Myopathy, Centronuclear, 1 |
|
Autosomal Dominant Centronuclear Myopathy
|
CNM1
|
|
Centronuclear Myopathy 1
|
Ad-Cnm
|
|
Myopathy, Centronuclear, Autosomal Dominant
|
Myotubular Myopathy, Autosomal Dominant
|
|
Centronuclear Myopathy, Autosomal, Modifier Of
|
Autosomal Dominant Myotubular Myopathy
|
|
Dnm2-Related Centronuclear Myopathy
|
Centronuclear Myopathy Autosomal Dominant
|
|
Myopathies, Structural, Congenital
|
Myopathy, Centronuclear, Type 1
|
|
|
| Western Equine Encephalitis |
|
Western Equine Encephalomyelitis
|
Wee
|
|
Encephalomyelitis, Western Equine
|
Western Equine Encephalitis Virus Infection
|
|
Wee - [Western Equine Encephalitis]
|
Western Equine Encephalitis Virus
|
|
|
| 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
|
|
|
| Myopathy, Myofibrillar, 6 |
|
Myofibrillar Myopathy 6
|
MFM6
|
|
Myopathy, Myofibrillar, Bag3-Related
|
Bag3-Related Myofibrillar Myopathy
|
|
Muscular Dystrophy, Selcen Type
|
Mfm Bag3-Related
|
|
Muscular Dystrophy Selcen Type
|
Myopathy Myofibrillar Bag3-Related
|
|
|
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
RALD
|
Autoimmune Lymphoproliferative Syndrome Type 4
|
|
Alps4
|
Autoimmune Lymphoproliferative Syndrome, Type Iv
|
|
Ras-Associated Autoimmune Leukoproliferative Disease
|
Ras-Associated Autoimmune Lymphoproliferative Syndrome Type Iv, Somatic
|
|
Alps Type 4
|
Alps Type Iv
|
|
Autoimmune Lymphoproliferative Syndrome Type Iv
|
Autoimmune Lymphoproliferative Syndrome 4
|
|
|
| Congenital Fiber-Type Disproportion |
|
Congenital Fiber Type Disproportion
|
Cftdm
|
|
Congenital Myopathy With Fiber Type Disproportion
|
Cftd
|
|
Congenital Fiber-Type Disproportion Myopathy
|
Fiber-Type Disproportion Myopathy, Congenital
|
|
Myopathy, Congenital With Fiber-Type Disproportion
|
|
|
| Rippling Muscle Disease 2 |
|
Rippling Muscle Disease
|
Rmd
|
|
Lgmd1c
|
RMD2
|
|
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c
|
Muscular Dystrophy, Limb-Girdle, Type 1c
|
|
Muscular Dystrophy, Limb-Girdle, Type 1c, Formerly
|
Lgmd1c, Formerly
|
|
Limb-Girdle Muscular Dystrophy Type 1c
|
Limb-Girdle Muscular Dystrophy Due To Caveolin-3 Deficiency
|
|
Muscular Dystrophy, Limb-Girdle, Type Ic
|
Rippling Muscle Syndrome
|
|
Limb-Girdle Muscular Dystrophy 1c
|
Dystrophy, Muscular, Limb-Girdle, Type 1c
|
|
Disease, Muscle, Rippling, Type 2
|
Rippling Muscle Disease 1
|
|
|
| Specific Developmental Disorder |
|
|
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric Septal Hypertrophy
|
Familial Hypertrophic Cardiomyopathy
|
|
Hypertrophic Cardiomyopathy 1
|
CMH1
|
|
Hypertrophic Cardiomyopathy 19
|
CMH
|
|
Ventricular Hypertrophy, Hereditary
|
Ash
|
|
Hypertrophic Subaortic Stenosis, Idiopathic
|
Cardiomyopathy, Familial Hypertrophic
|
|
Cardiomyopathy, Hypertrophic, 1, Digenic
|
Cardiomyopathy, Familial Hypertrophic 1
|
|
Hcm
|
Hereditary Ventricular Hypertrophy
|
|
Idiopathic Hypertrophic Subaortic Stenosis
|
Hypertrophic Cardiomyopathy
|
|
Cardiomyopathy, Hypertrophic, Familial
|
Cardiomyopathy, Hypertrophic, 1
|
|
Familial Asymmetric Septal Hypertrophy
|
Heritable Hypertrophic Cardiomyopathy
|
|
Fhc
|
Cardiomyopathy, Hypertrophic, Familial, Type 1
|
|
|
| Peters-Plus Syndrome |
|
Krause-Kivlin Syndrome
|
Peters Plus Syndrome
|
|
Peters Anomaly
|
Irido-Corneo-Trabecular Dysgenesis
|
|
PTRPLS
|
Peters Anomaly With Short-Limb Dwarfism
|
|
Peters Anomaly-Short Limb Dwarfism Syndrome
|
Peters Anomaly With Short Limb Dwarfism
|
|
Peters Congenital Glaucoma
|
Krause-Van Schooneveld-Kivlin Syndrome
|
|
Peters' Plus Syndrome
|
Peters'-Plus Syndrome
|
|
Anomaly Peters
|
|
|
| Lens Disease |
|
|
| Lissencephaly |
|
Pachygyria
|
Broad Gyri Of Cerebrum
|
|
Large Gyri Of Cerebrum
|
Macrogyria
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| Myopathy |
|
Muscular Diseases
|
Myopathies
|
|
|
| Nervous System Disease |
|
Abnormality Of The Nervous System
|
Nervous System Diseases
|
|
Nervous System Disorder
|
|
|
| Eye Disease |
|
Eye Diseases
|
Abnormality Of The Eye
|
|
Toxoplasma Oculopathy
|
|
|
