疾病名称 |
别名 |
|
Fabry Disease |
Alpha-Galactosidase A Deficiency
|
Anderson-Fabry Disease
|
Angiokeratoma Corporis Diffusum
|
Ceramide Trihexosidase Deficiency
|
Fabry Disease, Cardiac Variant
|
Fabry'S Disease
|
Hereditary Dystopic Lipidosis
|
Gla Deficiency
|
FD
|
Alpha Galactosidase Deficiency
|
Deficiency Of Melibiase
|
Angiokeratoma, Diffuse
|
Angiokeratoma Diffuse
|
Diffuse Angiokeratoma
|
|
|
Hypertrophic Cardiomyopathy |
Hypertrophic Obstructive Cardiomyopathy
|
Cardiomyopathy, Hypertrophic
|
Cardiomyopathy Hypertrophic Obstructive
|
Cardiomyopathy, Hypertrophic, Familial
|
Idiopathic Myocardial Hypertrophy
|
Idiopathic Hypertrophic Cardiomyopathy
|
Obstructive Idiopathic Hypertrophic Cardiomyopathy
|
Obstructive Cardiomyopathy
|
Idiopathic Hypertrophic Subaortic Stenosis
|
Muscular Subaortic Stenosis
|
Hypertrophic Obstructive Subaortic Stenosis
|
|
|
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
|
|
|
Angiokeratoma |
Angiokeratoma Of Skin
|
Cutaneous Angiokeratoma
|
Skin Angiokeratoma
|
|
|
Skin Hemangioma |
Angioma Of The Skin
|
Angiomatous Naevus Of Skin
|
Hemangioma Of Skin
|
|
|
Sphingolipidosis |
|
|
Anhidrosis |
Hypohidrosis
|
Absence Of Sweating
|
Adiaphoresis
|
Impaired Sweating
|
Oligohidrosis
|
|
|
Sweat Gland Disease |
|
|
Angiokeratoma Of Mibelli |
|
|
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
|
|
|
Nephrotic Syndrome |
Finnish Congenital Nephrotic Syndrome
|
Ns - [Nephrotic Syndrome]
|
Nephrosis Syndrome
|
Nephrosis Nos
|
Glomerular Lesion Nephrosis
|
|
|
Schindler Disease |
Alpha-N-Acetylgalactosaminidase Deficiency
|
Naga Deficiency
|
Alpha-Galactosidase B Deficiency
|
Alpha-Galnac Deficiency, Schindler Type
|
Alpha-Naga Deficiency
|
Angiokeratoma Corporis Diffusum-Glycopeptiduria
|
Galb Deficiency
|
Kanzaki Disease
|
Lysosomal Glycoaminoacid Storage Disease-Angiokeratoma Corporis Diffusum
|
Neuroaxonal Dystrophy, Schindler Type
|
Neuronal Axonal Dystrophy, Schindler Type
|
Schindler Disease, Type I
|
Schindler Disease, Type Ii
|
|
|
Tay-Sachs Disease |
Hexosaminidase A Deficiency
|
TSD
|
Hexa Deficiency
|
Gm2 Gangliosidosis, Type 1
|
Hexosaminidase Alpha-Subunit Deficiency
|
Gm2-Gangliosidosis, Several Forms
|
Gm2-Gangliosidosis, B, B1, Ab Variant
|
B Variant Gm2 Gangliosidosis
|
Sphingolipidosis, Tay-Sachs
|
Gm2-Gangliosidosis, Type I
|
B Variant Gm2-Gangliosidosis
|
Hex A Pseudodeficiency
|
Hexa Disorders
|
Beta-Hexosaminidase A Deficiency
|
Gm2 Gangliosidosis, Type I
|
Gangliosidosis Gm2 , Type 1
|
Gm2 Gangliosidosis, B, B1 Variant
|
Gm2-Gangliosidosis 1
|
GM2G1
|
Gm2-Gangliosidosis B Variant
|
Tay-Sachs Disease Pseudo-Ab Variant
|
Tay-Sachs Disease Variant B1
|
Gangliosidoses, Gm2
|
|
|
Keutel Syndrome |
KTLS
|
Pulmonic Stenosis, Brachytelephalangism, And Calcification Of Cartilages
|
Pulmonic Stenosis Brachytelephalangism And Calcification Of Cartilages
|
Pulmonic Stenosis-Brachytelephalangism-Calcification Of Cartilages Syndrome
|
|
|
Lysosomal Storage Disease |
Lysosomal Storage Diseases
|
Disorder Of Lysosomal Enzyme
|
Inborn Lysosomal Enzyme Disorder
|
Lysosomal Storage Metabolism Disorder
|
Lysosomal Storage Disorder
|
|
|
Cardiovascular Organ Benign Neoplasm |
|
|
Angiokeratoma Of Fordyce |
Fordyce Angiokeratoma
|
Fordyce'S Spot
|
Fordyce-Type Angiokeratoma Of Scrotum
|
|
|
Erythromelalgia |
Primary Erythromelalgia
|
Erythermalgia
|
Primary Erythermalgia
|
Mitchell Disease
|
Familial Erythromelalgia
|
|
|
Metachromatic Leukodystrophy |
Arylsulfatase A Deficiency
|
MLD
|
Arsa Deficiency
|
Sulfatide Lipidosis
|
Metachromatic Leukoencephalopathy
|
Cerebral Sclerosis, Diffuse, Metachromatic Form
|
Cerebroside Sulfatase Deficiency
|
Leukodystrophy, Metachromatic
|
Pseudoarylsulfatase A Deficiency
|
Leukodystrophy Metachromatic
|
Sulfatidosis
|
Metachromatic Leukodystrophy, Late Infantile
|
Metachromatic Leukodystrophy Variant
|
Deficiency Of Cerebroside-Sulfatase
|
Scholz Cerebral Sclerosis
|
Sulfatide Lipoidosis
|
Cerebral Sclerosis Diffuse Metachromatic Form
|
Arylsulfatase A Deficiency Disease
|
Cerebroside Sulphatase Deficiency Disease
|
Greenfield Disease
|
Metachromatic Leukodystrophy, Adult
|
Metachromatic Leukodystrophy, Juvenile
|
Leukodystrophy Metachromatic Adult
|
Leukodystrophy Metachromatic Juvenile
|
Leukodystrophy Metachromatic Late Infantile
|
Metachromatic Leukodystrophy, Adult Type
|
Metachromatic Leukodystrophy, Juvenile Type
|
Metachromatic Leukodystrophy, Infant
|
Greenfield'S Disease
|
|
|
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]
|
|
|
Lipid Storage Disease |
Lipoidosis
|
Inborn Lipid Storage Disorder
|
Lipoid Storage Diseas
|
Lipid Storage Diseases
|
Lipidoses
|
|
|
Angiokeratoma Circumscriptum |
|
|
Gaucher'S Disease |
Gaucher Disease
|
Kerasin Thesaurismosis
|
Glucocerebrosidase Deficiency
|
Glucosylceramidase Deficiency
|
Cerebroside Lipidosis Syndrome
|
Acid Beta-Glucosidase Deficiency
|
Glucosylceramide Beta-Glucosidase Deficiency
|
Acute Cerebral Gaucher Disease
|
Gaucher Splenomegaly
|
Glucocerebrosidosis
|
Glucosyl Cerebroside Lipidosis
|
Kerasin Lipoidosis
|
Lipoid Histiocytosis
|
Glocucerebrosidase Deficiency
|
Sphingolipidosis 1
|
Gaucher Syndrome
|
Gauchers Disease
|
Gd
|
Glucosylceramide Lipidosis
|
Kerasin Histiocytosis
|
Gaucher Disease, Type 1
|
Gaucher Disease, Type 2
|
|
|
Congenital Disorder Of Glycosylation, Type Ib |
CDG1B
|
Cdg Ib
|
Cdgib
|
Mannosephosphate Isomerase Deficiency
|
Mpi Deficiency
|
Protein-Losing Enteropathy-Hepatic Fibrosis Syndrome
|
Saguenay-Lac Saint-Jean Syndrome
|
Slsj Syndrome
|
Congenital Disorder Of Glycosylation Ib
|
Congenital Disorder Of Glycosylation 1b
|
Mpi-Cdg
|
Cdg-Ib
|
Congenital Disorder Of Glycosylation Type 1b
|
Congenital Disorder Of Glycosylation Type Ib
|
Cdg, Gastrointestinal Type
|
Cdg Syndrome Type Ib
|
Carbohydrate Deficient Glycoprotein Syndrome Type Ib
|
Phosphomannose Isomerase Deficiency
|
Carbohydrate-Deficient Glycoprotein Syndrome Type Ib
|
Cdg Gastrointestinal Type
|
Cdgs1b
|
Glycosylation, Congenital Disorder Of, Type Ib
|
|
|
Pompholyx |
Dyshidrosis
|
Vesicular Eczema Of Hands And/Or Feet
|
Cheiropompholyx
|
Dyshydrotic Eczema
|
Eczema, Dyshidrotic
|
Vesicular Hand Eczema
|
|
|
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
|
|
|
Skin Benign Neoplasm |
Neoplasm Of Skin By Site
|
Tumor Of The Skin
|
Skin Tumor
|
Benign Neoplasm Of Skin
|
Skin Neoplasms
|
|
|
Corneal Deposit |
|
|
Krabbe Disease |
Globoid Cell Leukodystrophy
|
Galactosylceramide Beta-Galactosidase Deficiency
|
Galc Deficiency
|
Galactocerebrosidase Deficiency
|
GLD
|
Globoid Cell Leukoencephalopathy
|
Diffuse Globoid Body Sclerosis
|
Gcl
|
Leukodystrophy, Globoid Cell
|
Krabbe'S Leukodystrophy
|
Krabbe Leukodystrophy
|
KRB
|
Beta Galactocerebrosidase Deficiency
|
Krabbe'S Disease
|
Galactosylceramidase Deficiency Disease
|
Galactosylceramide Lipidosis
|
Galactosylcerebrosidase Deficiency
|
Galactosylsphingosine Lipidosis
|
Psychosine Lipidosis
|
Galactosylceramidase Deficiency
|
Infantile Globoid Cell Leukodystrophy
|
Krabbe Brain Sclerosis
|
|
|
Kidney Disease |
Renal Failure
|
Kidney Failure
|
Kidney Diseases
|
Nephropathy
|
Abnormality Of The Kidney
|
Impaired Renal Function Disease
|
Renal Anomaly
|
Kidney Dysfunction
|
Renal Disease
|
Nephropathies
|
Renal Failure Adverse Event
|
Abnormal Renal Function
|
|
|
Farber Lipogranulomatosis |
Farber Disease
|
Acid Ceramidase Deficiency
|
Ceramidase Deficiency
|
Ac Deficiency
|
N-Laurylsphingosine Deacylase Deficiency
|
Farber'S Disease
|
FRBRL
|
Farber'S Lipogranulomatosis
|
Acylsphingosine Deacylase Deficiency
|
Farber-Uzman Syndrome
|
Acy
|
|
|
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]
|
|
|
Gaucher Disease, Perinatal Lethal |
Gaucher Disease Perinatal Lethal
|
Gaucher Disease, Collodion Type
|
Gaucher'S Disease Perinatal Lethal
|
Fetal Gaucher Disease
|
Perinatal Lethal Gaucher Disease
|
Gaucher Disease Collodion Type
|
Gaucher Disease, Perinatal-Lethal Form
|
GDPL
|
|
|
Sandhoff Disease |
Total Hexosaminidase Deficiency
|
Hexosaminidases A And B Deficiency
|
Sandhoff Disease, Infantile, Juvenile, And Adult Forms
|
Beta-Hexosaminidase-Beta-Subunit Deficiency
|
Gm2 Gangliosidosis, Type 2
|
Hexosaminidase A And B Deficiency Disease
|
Sandhoff-Jatzkewitz-Pilz Disease
|
Gm2 Gangliosidosis, Type Ii
|
Sandhoff Disease, Infantile Form
|
Sandhoff Disease, Adult Form
|
Sandhoff Disease, Juvenile Form
|
Gm2-Gangliosidosis, Type Ii
|
Sandhoff Jatzkewitz Disease
|
Type Ii Gm2 Gangliosidosis
|
Gm2 Gangliosidosis, 0 Variant
|
Gm2 Gangliosidosis 0 Variant
|
Hexosaminidases A And B Deficiency, Infantile Form
|
Infantile Gm2 Gangliosidosis 0 Variant
|
Adult Gm2 Gangliosidosis 0 Variant
|
Hexosaminidases A And B Deficiency, Adult Form
|
Hexosaminidases A And B Deficiency, Juvenile Form
|
Juvenile Gm2 Gangliosidosis 0 Variant
|
Gm2-Gangliosidosis 2
|
GM2G2
|
Hexosaminidase A And B Deficiency
|
Sd
|
|
|
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
|
|
|
Danon Disease |
Pseudoglycogenosis Ii
|
Antopol Disease
|
Glycogen Storage Disease Iib
|
Glycogen Storage Disease Type 2b
|
Glycogen Storage Disease Type Iib
|
Gsd2b
|
Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency
|
Vacuolar Cardiomyopathy And Myopathy X-Linked
|
Vacuolar Cardiomyopathy And Myopathy, X-Linked
|
Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency, Formerly
|
Gsd2b, Formerly
|
Gsd Iib, Formerly
|
Glycogen Storage Cardiomyopathy
|
Glycogen Storage Disease Limited To The Heart
|
Pseudoglycogenosis 2
|
X-Linked Vacuolar Cardiomyopathy And Myopathy
|
Lysosomal Glycogen Storage Disease With Normal Acid Maltase
|
Glycogen Storage Disease Due To Lamp-2 Deficiency
|
Gsd Due To Lamp-2 Deficiency
|
Glycogenosis Due To Lamp-2 Deficiency
|
Lysosomal Glycogen Storage Disease With Normal Acid Maltase Activity
|
DAND
|
Gsd-Iib
|
|
|
Gangliosidosis |
|
|
Gm2 Gangliosidosis |
Gangliosidosis Gm2
|
Gangliosidoses, Gm2
|
|
|
Vascular Disease |
Vascular Diseases
|
Aneurysm
|
Spinal Cord Ischemia
|
Vascular Anomaly
|
Spinal Cord Vascular Diseases
|
Vascular Tissue Disease
|
|
|
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 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
|
|
|
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
|
|
|
Chronic Kidney Disease |
Chronic Renal Disease
|
Chronic Kidney Failure
|
Ckd
|
Chronic Renal Failure
|
Kidney Failure, Chronic
|
Chronic Renal Failure Syndrome
|
Crf
|
Renal Failure - Chronic
|
Renal Failure Chronic
|
Chronic Kidney Diseases
|
Chronic Kidney Disease Stage 5
|
Ckd - [Chronic Kidney Disease]
|
Crf - [Chronic Renal Failure]
|
Chronic Kidney Impairment
|
Chronic Renal Impairment
|
Chronic Kidney Shutdown
|
Chronic Hypoxic Kidney Failure
|
Chronic Kidney Collapse
|
Chronic Renal Insufficiency
|
Chronic Kidney Toxaemia
|
Chronic Kidney Hypofunction
|
Chronic Renal Suppression
|
Chronic Renal Failure, Stage 5
|
Ckd - [Chronic Kidney Disease] Stage 5
|
End Stage Kidney Failure
|
End Stage Renal Failure
|
End Stage Kidney Disease
|
End Stage Renal Disease
|
End Stage Chronic Renal Failure
|
Esrf - [End Stage Renal Failure]
|
Esrd - [End Stage Renal Diseases]
|
Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²
|
|
|
Niemann-Pick Disease, Type A |
Niemann-Pick Disease Type A
|
Sphingomyelin Lipidosis
|
Sphingomyelinase Deficiency
|
Niemann-Pick Disease, Intermediate, Protracted Neurovisceral
|
Acid Sphingomyelinase Deficiency, Neurovisceral Type
|
Asmd, Neurovisceral Type
|
Infantile Neurovisceral Acid Sphingomyelinase Deficiency
|
Infantile Neurovisceral Asmd
|
Npd-A
|
Niemann-Pick Disease A
|
NPDA
|
Classical Niemann-Pick Disease
|
Niemann-Pick Disease Acute Neuronopathic Form
|
Niemann-Pick Disease Acute Neurovisceral Form
|
Niemann-Pick Disease Classical Infantile Form
|
Niemann-Pick Disease Intermediate Protracted Neurovisceral
|
Niemann-Pick Disease Neuronopathic Type
|
Niemann-Pick Disease Type I
|
Npa
|
Niemann-Pick Diseases
|
|
|
Amyloidosis, Hereditary, Transthyretin-Related |
Transthyretin Amyloidosis
|
Familial Amyloid Polyneuropathy
|
Ttr Amyloid Neuropathy
|
Transthyretin Amyloid Neuropathy
|
Transthyretin Amyloid Polyneuropathy
|
Fap
|
Familial Transthyretin Amyloidosis
|
Amyloidosis Transthyretin Related
|
Type I Familial Amyloid Polyneuropathy
|
Familial Amyloid Polyneuropathy Type I
|
Attrv122i Amyloidosis
|
Hereditary Amyloidosis, Transthyretin-Related
|
Amyloid Polyneuropathy, Familial
|
Attr Amyloidosis
|
Attrm Amyloidosis
|
Corino De Andrade'S Disease
|
Paramyloidosis
|
Transthyretin-Related Hereditary Amyloidosis
|
Ttr Amyloidosis
|
Hereditary Attr Amyloidosis
|
Portuguese Polyneuritic Amyloidosis
|
Portuguese Type Familial Amyloid Neuropathy
|
Swiss Type Amyloid Polyneuropathy
|
Type Ii Familial Amyloid Polyneuropathy
|
Attrv30m Amyloidosis
|
Attrv30m-Related Amyloidosis
|
Familial Amyloid Polyneuropathy, Portuguese-Swedish-Japanese Type
|
Attr Cardiomyopathy
|
Attrv122i-Related Amyloidosis
|
Ttr-Related Amyloid Cardiomyopathy
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Ttr-Related Cardiac Amyloidosis
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Transthyretin Amyloid Cardiopathy
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Transthyretin-Related Familial Amyloid Cardiomyopathy
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Amyloidosis, Transthyretin-Related
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AMYL-TTR
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Amyloidosis I
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Amyloidosis Ohio Type
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Amyloidosis Type 7
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Amyloidosis Vii
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Amyloid Polyneuropathy
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Attr
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Familial Amyloid Polyneuropathy Type Ii
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Hereditary Amyloidosis Transthyretin-Related
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Leptomeningeal Amyloidosis
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Meningocerebrovascular Amyloidosis
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Oculoleptomeningeal Amyloidosis
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Familial Amyloid Polyneuropathies
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Amyloidosis, Leptomeningeal
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Senile Cardiac Amyloidosis
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Amyloid Neuropathies, Familial
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Danish Type Familial Amyloid Cardiomyopathy
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Familial Amyloid Neuropathy, Portuguese Type
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Amyloid Polyneuropathy, Swiss Type
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Hereditary Oculoleptomeningeal Amyloid Angiopathy
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Amyloid Neuropathies
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Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
CADASIL2
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Cadasil 2
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Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Type 2
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Htra1-Related Autosomal Dominant Cerebral Small Vessel Disease
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Htra1-Related Autosomal Dominant Cerebral Angiopathy
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Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, 2
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Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy, Autosomal Dominant, 2
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Niemann-Pick Disease |
Sphingomyelin/Cholesterol Lipidosis
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Niemann-Pick Diseases
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Lipoid Histiocytosis
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Sphingomyelin Lipidosis
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Sphingomyelinase Deficiency Disease
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Lipid Histiocytosis
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Neuronal Cholesterol Lipidosis
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Neuronal Lipidosis
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Npd
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Sphingomyelinase Deficiency
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Niemann-Pick Disease, Type A
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Gaucher Disease, Type I |
Glucocerebrosidase Deficiency
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Acid Beta-Glucosidase Deficiency
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Gba Deficiency
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GD1
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Gd I
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Gaucher Disease, Noncerebral Juvenile
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Gaucher Disease Type 1
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Gaucher Disease Type I
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Gaucher'S Disease Type I
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Gaucher Disease
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Gd 1
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Non-Cerebral Juvenile Gaucher Disease
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GD
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Gaucher Disease 1
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Adult Non-Neuronopathic Gaucher Disease
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Noncerebral Juvenile Gaucher Disease
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Type 1 Gaucher Disease
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Gaucher Disease, Type 1
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Mucopolysaccharidosis Iii |
Sanfilippo Syndrome
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Mucopolysaccharidosis Type Iii
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Mucopolysaccharidosis Type 3
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Mps Iii
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Mpsiii
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Sanfilippo Disease
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Heparan Sulfate Sulfatase Deficiency
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Mucopolysaccharidosis, Mps-Iii
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N-Sulphoglucosamine Sulphohydrolase Deficiency
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Naglu Deficiency
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Sanfilippo'S Syndrome
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Mucopoly-Saccharidosis Type 3
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Mps3
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Sanfilippos Syndrome
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Mucopolysaccharidosis Type Iiia
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Mps Iii B
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Stroke, Ischemic |
Cerebral Infarction
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Stroke
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Ischemic Stroke
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Cerebrovascular Accident
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Cerebral Infarction, Susceptibility To
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Stroke, Ischemic, Susceptibility To
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Cerebral Infarct
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Ischemic Stroke, Susceptibility To
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Stroke, Susceptibility To
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Cva - Cerebral Infarction
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ISCHSTR
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Ischemic Cerebrovascular Accident
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Heart Disease |
Heart Failure
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Congenital Heart Disease
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Heart Diseases
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Congenital Heart Defects
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Congenital Heart Defect
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Heart Malformation
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Congenital Anomaly Of Heart
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Heart Defect
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Heart-Congenital Defect
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Congenital Heart Disorder
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Heart Defects Congenital
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Heart Defects, Congenital
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Heart Defects
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Heart Disease, Congenital
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Disease, Heart, Congenital
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Congestive Heart Failure
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Neuronal Ceroid Lipofuscinosis |
Hereditary Ceroid Lipofuscinosis
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Batten Disease
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Ncl
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Neuronal Ceroid-Lipofuscinoses
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Lipofuscinosis, Ceroid, Neuronal
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Juvenile Neuronal Ceroid Lipofuscinosis
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Cerebromacular Dystrophy
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Cerebromacular Degeneration
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Ceroid-Lipofuscinosis
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Ncl - [Neuronal Ceroid Lipofuscinosis]
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Amaurotic Familial Idiocy
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Amaurotic Idiocy
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Amaurotic Idiot
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Neuronal Lipofuscinosis
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Pigmentary Retinal Lipoid Neuronal Heredodegeneration
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