| 疾病名称 |
别名 |
|
| Congenital Disorder Of Glycosylation, Type Iq |
|
CDG1Q
|
Srd5a3-Cdg
|
|
Cdg Iq
|
Cdgiq
|
|
Congenital Disorder Of Glycosylation 1q
|
Cdg-Iq
|
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Congenital Disorder Of Glycosylation Type Iq
|
Coloboma, Ocular, With Ichthyosis, Brain Malformations, And Endocrine Abnormalities
|
|
Congenital Disorder Of Glycosylation Iq
|
Cdg Syndrome Type Iq
|
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Congenital Disorder Of Glycosylation Type 1q
|
Ocular Coloboma Ichthyosis Brain Malformations And Endocrine Abnormalities
|
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Glycosylation, Congenital Disorder Of, Type Iq
|
Coloboma, Ocular, And Ichthyosis, Brain Malformations, And Endocrine Abnormalities
|
|
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| Kahrizi Syndrome |
|
KHRZ
|
Mental Retardation, Cataract, Coloboma, And Kyphosis, Autosomal Recessive
|
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Intellectual Disability, Kahrizi Type
|
Intellectual Disability-Cataract-Coloboma-Kyphosis Syndrome
|
|
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| Srd5a3-Congenital Disorder Of Glycosylation |
|
Congenital Disorder Of Glycosylation Type 1q
|
Cdg Iq
|
|
Cdg-Iq
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| Nervous System Disease |
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Abnormality Of The Nervous System
|
Nervous System Diseases
|
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Nervous System Disorder
|
|
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| Cone Dystrophy |
|
Retinal Cone Dystrophy
|
Dystrophy, Cone
|
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Cone Dystrophy 3
|
|
|
| Autism |
|
Autistic Disorder
|
Autism Susceptibility 1
|
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Childhood Autism
|
Autistic Disorder Of Childhood Onset
|
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Infantile Autism
|
Kanner'S Syndrome
|
|
Autistic
|
|
|
| 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 Disorder Of Glycosylation, Type Im |
|
Dolichol Kinase Deficiency
|
CDG1M
|
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Dk1 Deficiency
|
Cdg Im
|
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Cdgim
|
Congenital Disorder Of Glycosylation Im
|
|
Congenital Disorder Of Glycosylation 1m
|
Dolk-Congenital Disorder Of Glycosylation
|
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Dk1-Cdg
|
Cdg-Im
|
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Congenital Disorder Of Glycosylation Type Im
|
Cdg Syndrome Type Im
|
|
Carbohydrate Deficient Glycoprotein Syndrome Type Im
|
Congenital Disorder Of Glycosylation Type 1m
|
|
Hypotonia And Ichthyosis Due To Dolichol Phosphate Deficiency
|
Glycosylation, Congenital Disorder Of, Type Im
|
|
|
| Immunodeficiency 47 |
|
Congenital Disorder Of Glycosylation Type Ii
|
CDG2E
|
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Congenital Disorder Of Glycosylation Type Iie
|
IMD47
|
|
Cdg2s
|
Cdg Iis
|
|
Cdgiis
|
Immunodeficiency And Hepatopathy With Or Without Neurologic Features
|
|
Congenital Disorder Of Glycosylation, Type Ii
|
CDG1I
|
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Congenital Disorder Of Glycosylation, Type Iie
|
Cdg Iie
|
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Congenital Disorder Of Glycosylation Type 2e
|
Congenital Disorder Of Glycosylation, Type Iis
|
|
Cdg Ii
|
Cdgii
|
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Cdgiie
|
Carbohydrate Deficient Glycoprotein Syndrome Type Iie
|
|
Cdg Syndrome Type Iie
|
Congenital Disorder Of Glycosylation Ii
|
|
Congenital Disorder Of Glycosylation 1i
|
Cdg-Iie
|
|
Alg2-Cdg
|
Cdg-Ii
|
|
Glycosylation, Congenital Disorder Of, Type Ii
|
Cdgiide
|
|
Congenital Disorder Of Glycosylation Type Iis
|
Cog7-Cdg
|
|
Cdg Syndrome Type Ii
|
Carbohydrate Deficient Glycoprotein Syndrome Type Ii
|
|
Congenital Disorder Of Glycosylation Type 1i
|
Mannosyltransferase 2 Deficiency
|
|
Congenital Disorder Of Glycosylation 2e
|
Congenital Disorder Of Glycosylation 2s
|
|
Congenital Disorders Of Glycosylation Type Ii
|
Glycosylation, Congenital Disorder Of, Type Iie
|
|
Immunodeficiency, Type 47
|
Congenital Disorder Of Glycosylation Type 2a
|
|
|
| Congenital Disorder Of Glycosylation, Type Iim |
|
CDG2M
|
Congenital Disorder Of Glycosylation Type Iim
|
|
Slc35a2-Cdg
|
Epileptic Encephalopathy, Early Infantile, 22
|
|
Cdg-Iim
|
Cdg Iim
|
|
Cdgiim
|
Developmental And Epileptic Encephalopathy 22
|
|
Eiee22
|
Congenital Disorder Of Glycosylation Type 2m
|
|
Cdg Syndrome Type Iim
|
Dee22
|
|
Slc35a2-Congenital Disorder Of Glycosylation
|
Epileptic Encephalopathy, Early Infantile, 22
|
|
Eiee22
|
Congenital Disorder Of Glycosylation 2m
|
|
Congenital Disorder Of Glycosylation X-Linked
|
Glycosylation, Congenital Disorder Of, Type Iim
|
|
|
| Developmental And Epileptic Encephalopathy 36 |
|
Congenital Disorder Of Glycosylation Type I
|
Epileptic Encephalopathy, Early Infantile, 36
|
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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
|
|
|
| Hermansky-Pudlak Syndrome 6 |
|
HPS6
|
Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial
|
|
Delta Storage Pool Disease
|
Hermansky-Pudlak Syndrome, Type 6
|
|
Platelet Storage Pool Deficiency
|
Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
|
|
|
| Ngly1-Deficiency |
|
Deficiency Of N-Glycanase 1
|
Ngly1-Cddg
|
|
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
|
Ngly1 Deficiency
|
|
Congenital Disorder Of Deglycosylation
|
Congenital Disorder Of Glycosylation Type Iv
|
|
Congenital Disorder Of Deglycosylation
|
Cddg
|
|
Congenital Disorder Of Glycosylation Type Iv
|
Cdg1v
|
|
|
| Congenital Disorder Of Glycosylation, Type Iih |
|
CDG2H
|
Congenital Disorder Of Glycosylation Type Iih
|
|
Cdg Iih
|
Cdgiih
|
|
Carbohydrate Deficient Glycoprotein Syndrome Type Iih
|
Congenital Disorder Of Glycosylation Type 2h
|
|
Cog8-Cdg
|
Cdg-Iih
|
|
Cdgiidh
|
Cdg Syndrome Type Iih
|
|
Congenital Disorder Of Glycosylation 2h
|
Glycosylation, Congenital Disorder Of, Type Iih
|
|
|
| Congenital Disorder Of Glycosylation, Type Iii |
|
CDG2I
|
Congenital Disorder Of Glycosylation Type Iii
|
|
Cdgiii
|
Carbohydrate Deficient Glycoprotein Syndrome Type Iii
|
|
Congenital Disorder Of Glycosylation Type 2i
|
Cog5-Cdg
|
|
Cdgiidi
|
Congenital Disorder Of Glycosylation 2i
|
|
Glycosylation, Congenital Disorder Of, Type Iii
|
Congenital Disorder Of Glycosylation, Type I-Iix
|
|
|
| Protein-Losing Enteropathy |
|
Protein-Losing Enteropathies
|
Enteropathy, Exudative
|
|
Exudative Enteropathy
|
Ple - [Protein-Losing Enteropathy]
|
|
|
| Castration-Resistant Prostate Carcinoma |
|
Prostatic Neoplasms, Castration-Resistant
|
|
|
| Coloboma Of Macula |
|
Coloboma
|
Congenital Ocular Coloboma
|
|
Microphthalmia, Isolated, With Coloboma
|
Agenesis Of Macula
|
|
Hereditary Macular Coloboma
|
Ocular Coloboma
|
|
Coloboma Of Eye
|
Macular Coloboma
|
|
Uveoretinal Coloboma
|
|
|
| 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
|
|
|
| Pseudohermaphroditism |
|
Indeterminate Sex And Pseudohermaphroditism
|
|
|
| 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
|
|
|
| Chromosome 1p36 Deletion Syndrome |
|
1p36 Deletion Syndrome
|
Deletion 1p36
|
|
Monosomy 1p36
|
Subtelomeric 1p36 Deletion
|
|
Monosomy 1p36 Syndrome
|
Distal Monosomy 1p36
|
|
Del(1)(P36)
|
Deletion 1pter
|
|
Monosomy 1pter
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
| Retinitis Pigmentosa |
|
RP
|
Rod-Cone Dystrophy
|
|
Autosomal Recessive Retinitis Pigmentosa
|
Non-Syndromic Retinitis Pigmentosa
|
|
Pericentral Pigmentary Retinopathy
|
Pigmentary Retinopathy
|
|
Tapetoretinal Degeneration
|
Rcd
|
|
Retinitis Pigmentosa Autosomal Recessive
|
ARRP
|
|
Retinitis Pigmentosa, Autosomal Recessive
|
Retinitis Pigmentosa 1
|
|
|
