| 疾病名称 |
别名 |
|
| Congenital Disorder Of Glycosylation, Type Ia |
|
CDG1A
|
Cdg Ia
|
|
Phosphomannomutase 2 Deficiency
|
Jaeken Syndrome
|
|
Pmm2-Congenital Disorder Of Glycosylation
|
Congenital Disorder Of Glycosylation Type Ia
|
|
Cdgia
|
Congenital Disorder Of Glycosylation Ia
|
|
Congenital Disorder Of Glycosylation 1a
|
Carbohydrate-Deficient Glycoprotein Syndrome Type Ia
|
|
Cdgs1a
|
Pmm2-Cdg
|
|
Cdg-Ia
|
Congenital Disorder Of Glycosylation Type 1a
|
|
Carbohydrate-Deficient Glycoprotein Syndrome, Type Ia, Formerly
|
Pmm Deficiency
|
|
Cdg Syndrome Type Ia
|
Carbohydrate Deficient Glycoprotein Syndrome Type Ia
|
|
Cdg Syndrome Type 1a
|
Jaeken'S Syndrome
|
|
Pmm2 Deficiency
|
Glycosylation, Congenital Disorder Of, Type Ia
|
|
|
| Cerebral Atrophy |
|
|
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
|
| 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
|
|
|
| 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
|
|
|
| Spasticity |
|
|
| Aceruloplasminemia |
|
Cerebellar Ataxia
|
Hypoceruloplasminemia
|
|
Hemosiderosis, Systemic, Due To Aceruloplasminemia
|
Familial Apoceruloplasmin Deficiency
|
|
Hereditary Ceruloplasmin Deficiency
|
Deficiency Of Ferroxidase
|
|
Hypoceruloplasminemia, Hereditary
|
Ceruloplasmin Deficiency
|
|
Systemic Hemosiderosis Due To Aceruloplasminemia
|
ACERULOP
|
|
|
| Premature Menopause |
|
Primary Ovarian Insufficiency
|
Premature Ovarian Failure
|
|
Hypergonadotropic Hypogonadism
|
Premature Ovarian Insufficiency
|
|
Menopause - Premature
|
Menopause Praecox
|
|
Menopause Premature
|
Menopause, Premature
|
|
Female Hypergonadotropic Hypogonadism
|
Hypergonadotrophic Ovarian Failure
|
|
Primary Female Hypogonadism
|
Pof - [Premature Ovarian Failure]
|
|
Ovarian Failure
|
Ovarian Secretion Suppression
|
|
Ovary Hyposecretion
|
Ovary Secretion Deficiency
|
|
Premature Menopause Nos
|
|
|
| Cerebral Palsy |
|
Infantile Cerebral Palsy
|
Mixed Cerebral Palsy
|
|
Palsy Cerebral
|
Palsy, Cerebral
|
|
Cerebral Palsy, Mixed
|
|
|
| Cerebellar Hypoplasia |
|
|
| 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
|
|
|
| Congenital Disorder Of Glycosylation, Type Ic |
|
CDG1C
|
Congenital Disorder Of Glycosylation Type 1c
|
|
Cdgic
|
Congenital Disorder Of Glycosylation Ic
|
|
Congenital Disorder Of Glycosylation 1c
|
Carbohydrate-Deficient Glycoprotein Syndrome Type V
|
|
Cdg Syndrome Type Ic
|
Congenital Disorder Of Glycosylation Type Ic
|
|
Glucosyltransferase 1 Deficiency
|
Cdg Ic
|
|
Carbohydrate-Deficient Glycoprotein Syndrome, Type I, With Deficient Glycosylation Of Dolichol-Linked Oligosaccharide, Formerly
|
Carbohydrate-Deficient Glycoprotein Syndrome, Type V, Formerly
|
|
Cdgs5, Formerly
|
Alg6-Congenital Disorder Of Glycosylation
|
|
Carbohydrate-Deficient Glycoprotein Syndrome Type Ic
|
Alg6-Cdg
|
|
Cdg-Ic
|
Carbohydrate Deficient Glycoprotein Syndrome Type Ic
|
|
Cdgs5
|
Glycosylation, Congenital Disorder Of, Type Ic
|
|
|
| Dissociated Nystagmus |
|
|
| Immunodeficiency 47 |
|
Congenital Disorder Of Glycosylation Type Ii
|
CDG2E
|
|
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
|
|
Congenital Disorder Of Glycosylation, Type Iie
|
Cdg Iie
|
|
Congenital Disorder Of Glycosylation Type 2e
|
Congenital Disorder Of Glycosylation, Type Iis
|
|
Cdg Ii
|
Cdgii
|
|
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
|
|
|
| Munchausen By Proxy |
|
Munchausen Syndrome By Proxy
|
Munchausen By Proxy Syndrome
|
|
Münchausen Syndrome By Proxy
|
|
|
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Chronic Granulomatous Disease Due To Deficiency Of Ncf-2
|
CGD2
|
|
Ncf2 Deficiency
|
P67-Phox Deficiency
|
|
Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Positive Type Ii
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type 2
|
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii
|
Cgd, Autosomal Recessive Cytochrome B-Positive, Type Ii
|
|
Granulomatous Disease, Chronic, Due To Ncf2 Deficiency
|
Neutrophil Cytosol Factor 2 Deficiency
|
|
Chronic Granulomatous Disease 2, Autosomal Recessive
|
Autosomal Recessive Chronic Granulomatous Disease 2
|
|
Cdg2
|
Deficiency Of Ncf2
|
|
Deficiency Of P67-Phox
|
Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type Ii
|
|
Deficiency Of Neutrophil Cytosol Factor 2
|
Avellino Corneal Dystrophy
|
|
|
| Diabetes Mellitus |
|
|
| Galactosemia I |
|
Galactosemia
|
Galt Deficiency
|
|
Classic Galactosemia
|
Galactose-1-Phosphate Uridylyltransferase Deficiency
|
|
Galactose-1-Phosphate Uridyltransferase Deficiency
|
GALAC1
|
|
Galactosemia, Classic
|
Galactosemia Type 1
|
|
Galactosemias
|
Classical Galactosemia
|
|
Galactosaemia
|
Galactose Intolerance
|
|
Epimerase Deficiency Galactosemia
|
Galactokinase Deficiency Disease
|
|
Galactose Epimerase Deficiency
|
Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease
|
|
Gale Deficiency
|
Galk Deficiency
|
|
Udp-Galactose-4-Epimerase Deficiency Disease
|
Utp Hexose-1-Phosphate Uridylyltransferase Deficiency
|
|
Galactosemia 1
|
Galactosemia, Duarte Variant
|
|
Deficiency Of Galactokinase
|
Udpglucose 4-Epimerase Deficiency Disease
|
|
Classical Galactosaemia
|
Galput Deficiency - [Galactose-4-Phosphate Uridyltransferase] Deficiency
|
|
Classic Galactosaemia
|
Deficiency Of Hexose-1-Phosphate Uridylyltransferase
|
|
Deficiency Of Udpglucose-Hexose-1-Phosphate Uridylyltransferase
|
Deficiency Of Galactose-1-Phosphate Uridylyltransferase
|
|
Galactose-1-Phosphate Uridyl Transferase Deficiency
|
Transferase Deficiency Galactosemia
|
|
Deficiency Of Uridyl Transferase
|
Deficiency Of Utp-Hexose-1-Phosphate Uridylyltransferase
|
|
Utp-Hexose-1-Phosphate Uridyltransferase Deficiency
|
|
|
| Congenital Disorder Of Glycosylation, Type Iid |
|
CDG2D
|
Congenital Disorder Of Glycosylation Type Iid
|
|
Cdg Iid
|
Cdgiid
|
|
B4galt1-Cdg
|
Cdg-Iid
|
|
Congenital Disorder Of Glycosylation Type 2d
|
Beta-1,4-Galactosyltransferase Deficiency
|
|
Cdg Syndrome Type Iid
|
Carbohydrate Deficient Glycoprotein Syndrome Type Iid
|
|
Congenital Disorder Of Glycosylation 2d
|
Glycosylation, Congenital Disorder Of, Type Iid
|
|
Congenital Disorder Of Glycosylation, Type Iiid
|
|
|
| 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 Iin |
|
CDG2N
|
Slc39a8-Cdg
|
|
Cdg Iin
|
Congenital Disorder Of Glycosylation Type Iin
|
|
Cdgiin
|
Carbohydrate Deficient Glycoprotein Syndrome Type Iin
|
|
Cdg Syndrome Type Iin
|
Congenital Disorder Of Glycosylation Type 2n
|
|
Cdg-Iin
|
Cdgiidn
|
|
Slc39a8 Deficiency
|
Congenital Disorder Of Glycosylation 2n
|
|
Glycosylation, Congenital Disorder Of, Type Iin
|
|
|
| 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
|
|
|
| Fructose-1,6-Bisphosphatase Deficiency |
|
Fructose-1,6-Diphosphatase Deficiency
|
Baker-Winegrad Disease
|
|
FBP1D
|
Fbpase Deficiency
|
|
Fructose 1,6 Diphosphatase Deficiency
|
Fructose 1 Phosphate Aldolase Deficiency
|
|
Fbp1 Deficiency
|
Hereditary Fructose Intolerance Syndrome
|
|
|
| Protein-Losing Enteropathy |
|
Protein-Losing Enteropathies
|
Enteropathy, Exudative
|
|
Exudative Enteropathy
|
Ple - [Protein-Losing Enteropathy]
|
|
|
| Esotropia |
|
Convergence In Manifest Squint
|
Crossed Eyes
|
|
Internal Strabismus
|
Convergent Concomitant Strabismus
|
|
Convergent Squint
|
Convergent Strabismus
|
|
Cross-Eye
|
|
|
| Epidermolysis Bullosa, Junctional 1b, Severe |
|
Epidermolysis Bullosa, Junctional, Herlitz Type
|
Epidermolysis Bullosa Letalis
|
|
JEB1B
|
Epidermolysis Bullosa Junctionalis, Herlitz Type
|
|
Jeb-Herlitz Type
|
Herlitz-Pearson-Type Epidermolysis Bullosa
|
|
Junctional Epidermolysis Bullosa Herlitz Type
|
Jeb-H
|
|
Junctional Epidermolysis Bullosa Generalisata Gravis
|
Junctional Epidermolysis Bullosa, Herlitz-Pearson Type
|
|
Epidermolysis Bullosa, Junctional, Generalized Severe
|
Epidermolysis Bullosa, Junctional, Herlitz-Pearson Type
|
|
Herlitz Type Epidermolysis Bullosa Junctionalis
|
Severe Generalized Junctional Epidermolysis Bullosa
|
|
Junctional Epidermolysis Bullosa, Herlitz Type
|
Severe Generalized Jeb
|
|
Epidermolysis Letalis
|
Junctional Epidermolysis Bullosa Gravis
|
|
Junctional Epidermolysis Bullosa Herlitz-Pearson Type
|
Herlitz Disease
|
|
|
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hyperinsulinism-Hyperammonemia Syndrome
|
HHF6
|
|
Familial Hyperinsulinemic Hypoglycemia 6
|
Hi/Ha Syndrome
|
|
Ha/Hi Syndrome
|
Hyperinsulinemic Hypoglycemia Familial 6
|
|
Hyperinsulinism Hyperammonemia Syndrome
|
Hhs
|
|
|
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
|
Pts Deficiency
|
|
HPABH4A
|
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Pts Deficiency
|
|
Ptsd
|
Bh4-Deficient Hyperphenylalaninemia A
|
|
Hyperphenylalaninemia Due To 6-Pyruvoyltetrahydropterin Synthase Deficiency
|
Tetrahydobioperin-Deficient Hyperphenylalaninemia Due To Pts Deficiency
|
|
Hyperphenylalanemia, Bh4-Deficient, A
|
Hyperphenylalaninemia Due To 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
|
|
6-Pyruvoyltetrahydropterin Synthase Deficiency
|
Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due To Pts Deficiency
|
|
Ptpsd
|
Hyperphenylalaninemia, Bh4-Deficient, Type A
|
|
|
| Congenital Disorder Of Glycosylation, Type Iik |
|
CDG2K
|
Congenital Disorder Of Glycosylation Type Iik
|
|
Cdg Iik
|
Cdgiik
|
|
Carbohydrate Deficient Glycoprotein Syndrome Type Iik
|
Cdg Syndrome Type Iik
|
|
Congenital Disorder Of Glycosylation Type 2k
|
Tmem165-Cdg
|
|
Cdg-Iik
|
Cdgiidk
|
|
Congenital Disorder Of Glycosylation 2k
|
Glycosylation, Congenital Disorder Of, Type Iik
|
|
|
| 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
|
|
|
| Hyperinsulinemic Hypoglycemia |
|
Nesidioblastosis
|
Islet Cell Hyperplasia
|
|
Persistent Hyperinsulinemia Hypoglycemia Of Infancy
|
Hyperinsulinemic Hypoglycaemia
|
|
|
| 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
|
|
|
| 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
|
|
|
| Thrombocytopenia |
|
Low Platelet Count
|
Low Platelets
|
|
Decreased Platelets
|
Platelet Dysfunction Nos
|
|
|
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Autosomal Recessive Polycystic Kidney Disease
|
Arpkd
|
|
Polycystic Kidney Disease, Autosomal Recessive
|
Polycystic Kidney And Hepatic Disease 1
|
|
Pkhd1
|
PKD4
|
|
Polycystic Kidney Disease 4 With Or Without Hepatic Disease
|
Polycystic Kidney Disease, Infantile, Type I
|
|
Polycystic Kidney Disease, Infantile Type
|
Polycystic Kidney, Autosomal Recessive
|
|
Pkd3, Formerly
|
Polycystic Kidney Disease 4, With Or Without Hepatic Disease
|
|
Arpkd/Chf
|
Ar-Pkd
|
|
Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease
|
Infantile Polycystic Kidney Disease Type I
|
|
Pkd3
|
Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease
|
|
Polycystic Kidney Disease 3, Autosomal Dominant
|
|
|
| Strabismus |
|
Strabismus, Susceptibility To
|
Strabismus, Susceptibility To, 1
|
|
Strabismus 1
|
|
|
