| 疾病名称 |
别名 |
|
| Mucopolysaccharidosis, Type Iva |
|
Mps Iva
|
Galns Deficiency
|
|
MPS4A
|
Morquio A Disease
|
|
Galactosamine-6-Sulfatase Deficiency
|
Morquio Syndrome A
|
|
Mucopolysaccharidosis Iva
|
Mucopolysaccharidosis Type Iva
|
|
Mpsiva
|
Morquio Disease Type A
|
|
Mucopolysaccharidosis Type 4a
|
N-Acetylgalactosamine-6-Sulfate Sulfatase Deficiency
|
|
Morquio Syndrome Type A
|
Mps 4a
|
|
Morquio Disease, Type A
|
Mucopolysaccharidosis 4a
|
|
Morquio'S Syndrome A
|
Mps Iv A
|
|
Mucopolysaccharidosis Iv
|
Mucopolysaccharidosis, Mps-Iv-A
|
|
|
| Mucopolysaccharidosis Iv |
|
Morquio Syndrome
|
Mucopolysaccharidosis Type 4
|
|
Mucopolysaccharidosis Type Iv
|
Morquio Disease
|
|
Galactosamine-6-Sulfatase Deficiency
|
Mps4
|
|
Mpsiv
|
Morquio-Brailsford Disease
|
|
Chondroosteodystrophy
|
Deficiency Of Chondroitinsulphatase
|
|
Deficiency Of N-Acetylgalactosamine-6-Sulphatase
|
Mucopolysaccharidosis, Mps-Iv
|
|
Osteochondrodystrophy
|
Morquio'S Disease
|
|
Morquio'S Syndrome
|
Mps Iv
|
|
Mucopolysaccharidosis Iv
|
Morquios Syndrome
|
|
Mucopolysaccharidosis, Mps-Iv-A
|
Mucopolysaccharidosis Type Ivb
|
|
Galns Deficiency
|
|
|
| Primary Bone Dysplasia |
|
Primary Osteodysplasia
|
Primary Skeletal Dysplasia
|
|
|
| Osteochondrodysplasia |
|
Skeletal Dysplasia
|
Chondrodystrophy
|
|
Congenital Anomaly Of Cartilage
|
Osteochondrodysplasias
|
|
Cartilage Development Disorder
|
Osteochondrodysplasia Syndrome
|
|
Dysplasia, Skeletal
|
Mucopolysaccharidosis Iv
|
|
|
| Mucopolysaccharidosis-Plus Syndrome |
|
Mucopolysaccharidosis
|
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
|
|
MPSPS
|
Mucopolysaccharidoses
|
|
Mps
|
Mucopolysaccharidosis-Like Plus Disease
|
|
Disorders Of Glycosaminoglycan Metabolism
|
|
|
| Mucopolysaccharidoses |
|
|
| Scheie Syndrome |
|
Mucopolysaccharidosis Type Is
|
Alpha-L-Iduronidase Deficiency
|
|
Mucopolysaccharidosis Type I
|
Mucopolysaccharidosis I
|
|
Hurler-Scheie Syndrome
|
Mucopolysaccharidosis Type 1
|
|
Mucopolysaccharidosis Is
|
Mucopolysaccharidosis Type 1s
|
|
Mucopolysaccharidosis Type V
|
Hurler Syndrome
|
|
Idua Deficiency
|
Mps I
|
|
MPS1S
|
Mps1-S
|
|
Mucopolysaccharidosis Type V, Formerly
|
Mps V, Formerly
|
|
Mps5, Formerly
|
Lipochondrodystrophy
|
|
Mpsis
|
Mucopolysaccharidosis, Type I
|
|
Iduronidase Deficiency Disease
|
Mps I - Hurler Syndrome
|
|
Mucopolysaccharidosis, Mps-I
|
Mucopolysaccharidosis, Type 1
|
|
Attenuated Mps I
|
Mps 1
|
|
Scheie Syndrome Formerly Known As Mucopolysaccharidosis Type V)
|
Severe Mps I
|
|
Mps I H
|
Mps I H-S
|
|
Mps I S
|
Mps1
|
|
Mpsi
|
Mucopolysaccharidosis 1s
|
|
Mps Is
|
Mps-Is
|
|
Mps V
|
Mucopolysaccharidosis V
|
|
Pfaundler-Hurler Syndrome
|
L-Iduronidase Deficiency
|
|
Dysostosis Multiplex
|
Dysostosis Multiplex Syndrome
|
|
Gargoylism
|
Mps1 - [Mucopolysaccharidosis Type 1]
|
|
|
| Gm1 Gangliosidosis |
|
Beta-Galactosidase Deficiency
|
Gangliosidosis Gm1
|
|
Deficiency Of Beta-Galactosidase
|
Beta Galactosidase 1 Deficiency
|
|
Beta-Galactosidosis
|
Glb 1 Deficiency
|
|
Beta-Galactosidase-1 Deficiency
|
Beta-Galactosidase-1 Deficiency
|
|
Glb1 Deficiency
|
Landing Disease
|
|
Gangliosidosis, Gm1
|
|
|
| Lysosomal Storage Disease |
|
Lysosomal Storage Diseases
|
Disorder Of Lysosomal Enzyme
|
|
Inborn Lysosomal Enzyme Disorder
|
Lysosomal Storage Metabolism Disorder
|
|
Lysosomal Storage Disorder
|
|
|
| Mucopolysaccharidosis, Type Ivb |
|
Mucopolysaccharidosis Type Ivb
|
Mps Ivb
|
|
MPS4B
|
Morquio Syndrome B
|
|
Beta-D-Galactosidase Deficiency
|
Morquio Disease Type B
|
|
Mps 4b
|
Mucopolysaccharidosis Type 4b
|
|
Mpsivb
|
Morquio Disease, Type B
|
|
Mucopolysaccharidosis Type Iv-B
|
Mucopolysaccharidosis 4b
|
|
Morquio'S Syndrome B
|
Mps-Ivb
|
|
|
| Gangliosidosis |
|
|
| Multiple Sulfatase Deficiency |
|
Mucosulfatidosis
|
MSD
|
|
Sulfatidosis, Juvenile, Austin Type
|
Multiple Sulfatase Deficiency Disease
|
|
Juvenile Sulfatidosis, Austin Type
|
Juvenile Sulfatidosis
|
|
Sulfatidosis Juvenile, Austin Type
|
Austin Syndrome
|
|
Sulfatidosis Juvenile Austin Type
|
Sulfatase Deficiency, Multiple
|
|
|
| Hurler Syndrome |
|
Mucopolysaccharidosis Ih
|
Mucopolysaccharidosis Type Ih
|
|
Mps1-H
|
MPS1H
|
|
Hurler Disease
|
Mpsih
|
|
Mucopolysaccharidosis Type 1h
|
Alpha-L-Iduronidase Deficiency
|
|
Dysostosis Multiplex
|
Dysostosis Multiplex Syndrome
|
|
Gargoylism
|
Hurler Disease Mps Type 1h
|
|
Hurler-Pfaundler Syndrome
|
L-Iduronidase Deficiency, Hurler Type
|
|
Mucopolysaccharidosis Type I Severe Form
|
Mucopolysaccharidosis 1h
|
|
Hurler'S Syndrome
|
Mps Ih
|
|
Mps-Ih
|
Pfaundler-Hurler Syndrome
|
|
Mucopolysaccharidosis I
|
|
|
| Mucopolysaccharidosis, Type Vi |
|
Maroteaux-Lamy Syndrome
|
Arylsulfatase B Deficiency
|
|
Mucopolysaccharidosis Type Vi
|
Mps Vi
|
|
Mucopolysaccharidosis Vi
|
Mucopolysaccharidosis Type 6
|
|
MPS6
|
Arsb Deficiency
|
|
N-Acetylgalactosamine-4-Sulfatase Deficiency
|
Mucopolysaccharidosis 6
|
|
N-Acetylgalactosamine 4-Sulfatase Deficiency
|
Deficiency Of N-Acetylgalactosamine-4-Sulfatase
|
|
Maroteaux - Lamy Syndrome
|
Mps Vi - Maroteaux-Lamy Syndrome
|
|
Mps 6
|
Maroteaux Lamy Syndrome
|
|
Mucopoly-Saccharidosis Type Vi
|
Polydystrophic Dwarfism
|
|
Asb Deficiency
|
Mpsvi
|
|
Maroteaux-Lamy Disease
|
Arsb - [Arylsulfatase B] Deficiency
|
|
|
| Mucopolysaccharidosis, Type Iiic |
|
Mucopolysaccharidosis Type Iiic
|
MPS3C
|
|
Mps Iiic
|
Sanfilippo Syndrome C
|
|
Heparan-Alpha-Glucosaminide N-Acetyltransferase Deficiency
|
Hgsnat Deficiency
|
|
Mpsiiic
|
Mucopolysaccharidosis Type 3c
|
|
Sanfilippo Syndrome Type C
|
Acetyl-Coa:Alpha-Glucosaminide N-Acetyltransferase Deficiency
|
|
Mucopoly-Saccharidosis Type 3c
|
Acetyl-Coa Alpha-Glucosaminide Acetyltransferase Deficiency
|
|
Acetyl-Coa Alpha-Glucosaminide N-Acetyltransferase Deficiency
|
Mps 3c
|
|
Mps Iii-C
|
Mucopolysaccharidosis 3c
|
|
Mucopolysaccharidosis Iii
|
Mps Iii C
|
|
|
| Mucopolysaccharidosis, Type Iiib |
|
Mucopolysaccharidosis Type Iiib
|
MPS3B
|
|
Naglu Deficiency
|
Mps Iiib
|
|
Sanfilippo Syndrome B
|
N-Acetyl-Alpha-D-Glucosaminidase Deficiency
|
|
Mpsiiib
|
Mucopoly-Saccharidosis Type 3b
|
|
Mucopolysaccharidosis Type 3b
|
N-Acetyl-Alpha-Glucosaminidase Deficiency
|
|
Sanfilippo Syndrome Type B
|
Mps Iii B
|
|
Mps 3b
|
Mps Iii-B
|
|
Mucopolysaccharidosis 3b
|
|
|
| Mucopolysaccharidosis, Type Iiid |
|
Mucopolysaccharidosis Type Iiid
|
MPS3D
|
|
Mps Iiid
|
N-Acetylglucosamine-6-Sulfatase Deficiency
|
|
Sanfilippo Syndrome D
|
Gns Deficiency
|
|
Mucopolysaccharidosis Type 3d
|
Sanfilippo Syndrome Type D
|
|
Glucosamine N-Acetyl-6-Sulfatase Deficiency
|
Mpsiiid
|
|
Mps 3d
|
Mucopoly-Saccharidosis Type 3d
|
|
N-Acetylglucosamine-6-Sulfate Sulfatase Deficiency
|
Mps Iii-D
|
|
Mucopolysaccharidosis 3d
|
Sanfilippo D Syndrome
|
|
Mps Iii D
|
|
|
| Mucopolysaccharidosis, Type Ii |
|
Hunter Syndrome
|
Iduronate 2-Sulfatase Deficiency
|
|
Mucopolysaccharidosis Ii
|
Mps Ii
|
|
Mucopolysaccharidosis Type Ii
|
MPS2
|
|
Sulfoiduronate Sulfatase Deficiency
|
Mucopolysaccharidosis, Mps-Ii
|
|
Ids Deficiency
|
Sids Deficiency
|
|
I2s Deficiency
|
Mucopolysaccharidosis Type 2
|
|
Mucopolysaccharidosis Type 2, Severe Form
|
Deficiency Of Iduronate-2-Sulphatase
|
|
Hunter'S Syndrome
|
Mps Ii - Hunter Syndrome
|
|
Iduronate-2-Sulfatase Deficiency
|
Attenuated Mps
|
|
Mps 2
|
Severe Mps Ii
|
|
Mpsii
|
Mucopolysaccharidosis Type 2, Attenuated Form
|
|
Hunter Syndrome Type B
|
Iduronate 2-Sulfatase Deficiency Type B
|
|
Mps2b
|
Mpsiib
|
|
Mucopolysaccharidosis Type 2b
|
Mucopolysaccharidosis Type Ii, Attenuated Form
|
|
Mucopolysaccharidosis Type Iib
|
Hunter Syndrome Type A
|
|
Iduronate 2-Sulfatase Deficiency Type A
|
Mps2a
|
|
Mpsiia
|
Mucopolysaccharidosis Type 2a
|
|
Mucopolysaccharidosis Type Ii, Severe Form
|
Mucopolysaccharidosis Type Iia
|
|
Mucopolysaccharidosis 2
|
Hunters Syndrome
|
|
Iduronate 2-Sulphatase Deficiency
|
Iduronate Sulfatase Deficiency
|
|
Iduronate Sulphatase Deficiency
|
Sulfo-Iduronate Sulfatase Deficiency
|
|
Sulfoiduronidate Sulfatase Deficiency
|
Sulpho-Iduronate Sulphatase Deficiency
|
|
Sulphoiduronidate Sulphatase Deficiency
|
Mps2 - [Mucopolysaccharidosis 2]
|
|
|
| Osteochondrosis |
|
Osteochondritis
|
Apophysitis
|
|
Epiphysitis
|
Osteochondritis Juvenilis
|
|
Epiphyseal Necrosis
|
Juvenile Osteochondrosis Of Tibial Tubercle
|
|
|
| Mucopolysaccharidosis Iii |
|
Sanfilippo Syndrome
|
Mucopolysaccharidosis Type Iii
|
|
Mucopolysaccharidosis Type 3
|
Mps Iii
|
|
Mpsiii
|
Sanfilippo Disease
|
|
Heparan Sulfate Sulfatase Deficiency
|
Mucopolysaccharidosis, Mps-Iii
|
|
N-Sulphoglucosamine Sulphohydrolase Deficiency
|
Naglu Deficiency
|
|
Sanfilippo'S Syndrome
|
Mucopoly-Saccharidosis Type 3
|
|
Mps3
|
Sanfilippos Syndrome
|
|
Mucopolysaccharidosis Type Iiia
|
Mps Iii B
|
|
|
| Hurler-Scheie Syndrome |
|
Mucopolysaccharidosis Type Ih/S
|
Mucopolysaccharidosis Ih/S
|
|
MPS1H/S
|
Mpsih/S
|
|
Mucopolysaccharidosis Type 1h/S
|
Mps1-Hs
|
|
Alpha-L-Iduronidase Deficiency
|
Mucopolysaccharidosis I
|
|
Mucopolysaccharidosis 1h/S
|
Mps-Ih/S
|
|
|
| Mucopolysaccharidosis, Type Vii |
|
Sly Syndrome
|
Beta-Glucuronidase Deficiency
|
|
Mucopolysaccharidosis Vii
|
Mucopolysaccharidosis Type Vii
|
|
MPS7
|
Mps Vii
|
|
Gusb Deficiency
|
Mucopolysaccharidosis Type 7
|
|
Mucopolysaccharidosis 7
|
Deficiency Of Beta-Glucuronidase
|
|
Mps Vii - Sly Syndrome
|
Mps 7
|
|
Mpsvii
|
Sly Disease
|
|
Sl
|
|
|
| Galactosialidosis |
|
Goldberg Syndrome
|
Neuraminidase Deficiency With Beta-Galactosidase Deficiency
|
|
Ppca Deficiency
|
GSL
|
|
Lysosomal Protective Protein Deficiency
|
Cathepsin A Deficiency
|
|
Neuraminidase/Beta-Galactosidase Expression
|
Protective Protein/Cathepsin A Deficiency
|
|
Ngbe
|
Cathepsin A Deficiency Of
|
|
Lysosomal Protective Protein Deficiency Of
|
Deficiency Of Cathepsin A
|
|
Neuraminidase Beta-Galactosidase Deficiency
|
Protective Protein Cathepsin A Deficiency
|
|
|
| Mucopolysaccharidosis, Type Iiia |
|
Mucopolysaccharidosis Type Iiia
|
MPS3A
|
|
Mps Iiia
|
Sanfilippo Syndrome A
|
|
Heparan Sulfate Sulfatase Deficiency
|
Sulfamidase Deficiency
|
|
Heparan Sulfamidase Deficiency
|
Mpsiiia
|
|
Mucopolysaccharidosis Type 3a
|
Sanfilippo Syndrome Type A
|
|
Mucopolysaccharidosis Iii-A
|
Heparane Sulfamidase Deficiency
|
|
Mps 3a
|
Mucopoly-Saccharidosis Type 3a
|
|
Mps Iii-A
|
Mucopolysaccharidosis 3a
|
|
Mucopolysaccharidosis Iii
|
|
|
| Dyggve-Melchior-Clausen Disease |
|
Dyggve-Melchior-Clausen Syndrome
|
DMC
|
|
Dmc Disease
|
Pseudo-Morquio Disease Type I
|
|
Dmc Syndrome
|
|
|
| Fucosidosis |
|
Alpha-L-Fucosidase Deficiency
|
Fucosidase Deficiency Disease
|
|
A-Fucosidase Deficiency
|
Alpha Fucosidase Deficiency
|
|
Lysosomal Storage Disease Caused By Defective Alpha-L-Fucosidase With Accumulation Of Fucose In The Tissues
|
Alpha-Fucosidase Deficiency
|
|
Fucosidase Deficiency
|
FUCA1D
|
|
|
| Kanzaki Disease |
|
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
|
Naga Deficiency Type 2
|
|
Schindler Disease, Type Ii
|
Adult-Onset Alpha-N-Acetylgalactosaminidase Deficiency
|
|
Schindler Disease Type 2
|
Alpha-N-Acetylgalactosaminidase Deficiency, Type Ii
|
|
Alpha-N-Acetylgalactosaminidase Deficiency, Adult-Onset
|
Naga Deficiency, Type Ii
|
|
Alpha-N-Acetylgalactosaminidase Deficiency Adult Onset
|
KANZD
|
|
Naga Deficiency Type Ii
|
Schindler Disease Type Ii
|
|
|
| Legg-Calve-Perthes Disease |
|
Perthes Disease
|
LCPD
|
|
Coxa Plana
|
Legg-Perthes Disease
|
|
Juvenile Osteochondrosis Of Hip And Pelvis
|
Pseudocoxalgia
|
|
Legg-Calvé-Perthes Disease
|
Lcp
|
|
Calve - Perthes' Disease
|
Juvenile Osteochond-Hip/Pelvis
|
|
Juvenile Osteochondrosis Of Hip And/Or Pelvis
|
Legg-Calve-Perthes Symptom
|
|
Osteochondrosis Of Legg-Calve-Perthes
|
Perthe'S Disease
|
|
Legg-Calve-Perthes Syndrome
|
Osteochondritis Deformans
|
|
Calve-Perthes Disease
|
Aseptic Necrosis Of The Capital Femoral Epiphysis
|
|
Osteochondrosis Of The Capital Femoral Epiphysis
|
Legg-Calvé-Perthes Syndrome
|
|
Avascular Necrosis Of The Capital Femoral Epiphysis
|
|
|
| Zellweger Syndrome |
|
Cerebrohepatorenal Syndrome
|
Zellweger Leukodystrophy
|
|
Zs
|
Congenital Iron Overload
|
|
Chr
|
Zws
|
|
Severe Pbd-Zsd
|
Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
|
|
|
| Gm1-Gangliosidosis, Type Ii |
|
Gm1 Gangliosidosis Type 2
|
GM1G2
|
|
Gangliosidosis, Generalized Gm1, Type 2
|
Juvenile Gm1 Gangliosidosis
|
|
Gangliosidosis Generalized Gm1 Type 2
|
Gangliosidosis, Generalized Gm1, Juvenile Type
|
|
Gangliosidosis, Generalized Gm1, Type Ii
|
Gangliosidosis Generalized Gm1 Juvenile Type
|
|
Late-Infantile Gm1 Gangliosidosis
|
Gm1-Gangliosidosis 2
|
|
Gangliosidosis Generalized Gm1 Late Infantile Type
|
Gm1-Gangliosidosis Generalized Juvenile Type
|
|
Gangliosidosis, Gm1, Type Ii
|
|
|
| Adenine Phosphoribosyltransferase Deficiency |
|
Aprt Deficiency
|
2,8-Dihydroxyadenine Urolithiasis
|
|
APRTD
|
2,8-Dihydroxyadeninuria
|
|
Dihydroxyadeninuria
|
Urolithiasis, 2,8-Dihydroxyadenine
|
|
Urolithiasis, Dha
|
Nephrolithiasis, Dha
|
|
Dha Crystalline Nephropathy
|
Nephrolithiasis Dha
|
|
Urolithiasis Dha
|
|
|
| Tracheomalacia |
|
Congenital Tracheomalacia
|
Congenital Major Airway Collapse
|
|
Tracheomalacia, Congenital
|
Type 1 Tracheomalacia
|
|
|
| Osteogenesis Imperfecta, Type Xi |
|
Osteogenesis Imperfecta Type 11
|
OI11
|
|
Osteogenesis Imperfecta Type Xi
|
Oi, Type Xi
|
|
Osteogenesis Imperfecta 11
|
Oi Type Xi
|
|
Oi-Xi
|
|
|
| Tracheal Stenosis |
|
|
| Tracheal Disease |
|
Tracheal Diseases
|
Tracheal Anomaly
|
|
Tracheal Disorders
|
|
|
| Mucolipidosis |
|
|
| Isolated Growth Hormone Deficiency, Type Ii |
|
Ighd Ii
|
Isolated Growth Hormone Deficiency Type Ii
|
|
IGHD2
|
Growth Hormone Deficiency, Isolated, Type Ii
|
|
Congenital Ighd Type Ii
|
Congenital Isolated Gh Deficiency Type Ii
|
|
Congenital Isolated Growth Hormone Deficiency Type Ii
|
Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency Autosomal Dominant
|
|
Growth Hormone Deficiency, Isolated, Autosomal Dominant
|
Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency, Autosomal Dominant
|
|
Autosomal Dominant Isolated Growth Hormone Deficiency
|
Autosomal Dominant Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency
|
|
Isolated Growth Hormone Deficiency Type 2
|
Growth Hormone Deficiency, Isolated Autosomal Dominant
|
|
Growth Hormone Deficiency, Isolated, 2
|
Growth Hormone Deficiency Isolated Autosomal Dominant
|
|
|
| Bone Development Disease |
|
|
| Umbilical Hernia |
|
|
| Sphingolipidosis |
|
|
| Neuronal Ceroid Lipofuscinosis |
|
Hereditary Ceroid Lipofuscinosis
|
Batten Disease
|
|
Ncl
|
Neuronal Ceroid-Lipofuscinoses
|
|
Lipofuscinosis, Ceroid, Neuronal
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
|
Cerebromacular Dystrophy
|
Cerebromacular Degeneration
|
|
Ceroid-Lipofuscinosis
|
Ncl - [Neuronal Ceroid Lipofuscinosis]
|
|
Amaurotic Familial Idiocy
|
Amaurotic Idiocy
|
|
Amaurotic Idiot
|
Neuronal Lipofuscinosis
|
|
Pigmentary Retinal Lipoid Neuronal Heredodegeneration
|
|
|
