| 疾病名称 |
别名 |
|
| 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
|
|
|
| Cathepsin A-Related Arteriopathy-Strokes-Leukoencephalopathy |
|
|
| Absolute Glaucoma |
|
Blind Hypertensive Eye
|
Glaucoma Absolute
|
|
|
| Glycoproteinosis |
|
Sialidosis
|
Mucolipidosis Type I
|
|
Mucolipidoses
|
Cherry Red Spot Myoclonus Syndrome
|
|
Mucolipidosis I
|
Myoclonus Cherry Red Spot Syndrome
|
|
Type I Mucolipidosis
|
Lipomucopolysaccharidosis
|
|
Disorders Of Glycoprotein Metabolism
|
Glycoprotein Storage Disorder
|
|
|
| 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
|
|
|
| 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
|
|
|
| Gangliosidosis |
|
|
| Lysosomal Storage Disease |
|
Lysosomal Storage Diseases
|
Disorder Of Lysosomal Enzyme
|
|
Inborn Lysosomal Enzyme Disorder
|
Lysosomal Storage Metabolism Disorder
|
|
Lysosomal Storage Disorder
|
|
|
| Acute Gonococcal Salpingitis |
|
Gonococcal Salpingitis, Specified As Acute
|
|
|
| Angiokeratoma |
|
Angiokeratoma Of Skin
|
Cutaneous Angiokeratoma
|
|
Skin Angiokeratoma
|
|
|
| Hydrops Fetalis, Nonimmune |
|
Hydrops Fetalis
|
Non-Immune Hydrops Fetalis
|
|
NIHF
|
Familial Non-Immune Hydrops Fetalis
|
|
Hydrops Fetalis Nonimmune
|
Idiopathic Hydrops Fetalis
|
|
Hb Bart'S Hydrops Fetalis
|
Alpha-Thalassemia Hydrops Fetalis
|
|
Alpha-Thalassemia Major
|
Hemoglobin Bart'S Hydrops Fetalis
|
|
Homozygous Alpha0-Thalassemia
|
Fetal Anasarca
|
|
Fetal Hydrops
|
Generalized Fetal Edema
|
|
Hf
|
Non-Immune Hf
|
|
Non-Immune Fetal Edema
|
Non-Immune Fetal Hydrops
|
|
Hydrops Fetalis, Non-Immune
|
Hemoglobin Bart'S Hydrops Syndrome
|
|
|
| Atrophic Rhinitis |
|
Rhinitis, Atrophic
|
Ozena
|
|
Rhinitis Sicca
|
Dry Rhinitis
|
|
Ozaena
|
|
|
| Mucolipidosis |
|
|
| Chronic Gonococcal Salpingitis |
|
|
| 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, 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
|
|
|
| Cataract 48 |
|
|
| 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 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
|
|
|
| Skin Hemangioma |
|
Angioma Of The Skin
|
Angiomatous Naevus Of Skin
|
|
Hemangioma Of Skin
|
|
|
| Chronic Salpingitis |
|
|
| Aspartylglucosaminuria |
|
Aspartylglycosaminuria
|
Glycosylasparaginase Deficiency
|
|
Aspartylglucosaminidase Deficiency
|
Aga Deficiency
|
|
AGU
|
Aspartylglucosamidase Deficiency
|
|
Glycoasparaginase
|
Aspartylglucosamidase Deficiency
|
|
Hyperammonemia, Type Iii
|
|
|
| Pelvic Inflammatory Disease |
|
|
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Hereditary Diffuse Leukoencephalopathy With Spheroids
|
Adult-Onset Leukoencephalopathy With Axonal Spheroids And Pigmented Glia
|
|
Alsp
|
Gpsc
|
|
Subcortical Gliosis Of Neumann
|
Leukoencephalopathy, Diffuse Hereditary, With Spheroids 1
|
|
Autosomal Dominant Leukoencephalopathy With Neuroaxonal Spheroids
|
Hdls
|
|
HDLS1
|
Leukoencephalopathy, Adult-Onset, With Axonal Spheroids And Pigmented Glia
|
|
Gliosis, Familial Progressive Subcortical
|
Leukoencephalopathy, Diffuse Hereditary, With Spheroids
|
|
Pold
|
Pigmentary Orthochromatic Leukodystrophy
|
|
Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids And Pigmented Glia
|
Familial Progressive Subcortical Gliosis
|
|
Leukoencephalopathy With Neuroaxonal Spheroids, Autosomal Dominant
|
Dementia, Familial, Neumann Type
|
|
Adult-Onset Leukodystrophy With Neuroaxonal Spheroids
|
Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids
|
|
Neuroaxonal Leukodystrophy
|
Fpsg
|
|
Familial Dementia, Neumann Type
|
Familial Dementia Neumann Type
|
|
Leukoencephalopathy, Diffuse Hereditary, With Spheroid
|
|
|
| Acute Salpingitis |
|
|
| 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
|
|
|
| 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
|
|
|
| Sphingolipidosis |
|
|
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
|
Crv
|
|
Rvcl
|
Rvcl-S
|
|
Vasculopathy, Retinal, With Cerebral Leukodystrophy
|
Retinopathy, Vascular, With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena
|
|
Retinal Vasculopathy With Cerebral Leukodystrophy
|
Retinal Vasculopathy And Cerebral Leukoencephalopathy
|
|
Hereditary Vascular Retinopathy
|
Hvr
|
|
RVCLS
|
Cerebroretinal Vasculopathy, Hereditary
|
|
Cerebroretinal Vasculopathy
|
Herns
|
|
Vasculopathy, Retinal, With Cerebral Leukodystrophy, Formerly
|
Hereditary Cerebroretinal Vasculopathy
|
|
Hereditary Endotheliopathy, Retinopathy, Nephropathy, Stroke
|
Hereditary Systemic Angiopathy
|
|
Hsa
|
Retinal Vasculopathy With Cerebral Leukodystrophy With Systemic Manifestations
|
|
Adrvcl
|
Autosomal Dominant Retinal Vasculopathy With Cerebral Leukodystrophy
|
|
Hereditary Endotheliopathy With Retinopathy-Nephropathy-Stroke
|
Vascular Retinopathy With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena
|
|
|
| Cataract |
|
Cataracts
|
Cat - [Cataract]
|
|
Cataract Form
|
Lens Opacity
|
|
Lens Opacities
|
|
|
| Atrial Septal Defect 1 |
|
ASD1
|
Atrial Heart Septal Defect 1
|
|
Asd
|
|
|
| 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
|
|
|
