| Diseases |
Alias |
|
| 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
|
|
|
| Left Ventricular Noncompaction |
|
Noncompaction Cardiomyopathy
|
Left Ventricular Hypertrabeculation
|
|
Lvnc
|
Spongy Myocardium
|
|
Isolated Noncompaction Of The Ventricular Myocardium
|
Left Ventricular Myocardial Noncompaction Cardiomyopathy
|
|
Fetal Myocardium
|
Honeycomb Myocardium
|
|
Hypertrabeculation Syndrome
|
Left Ventricular Non-Compaction
|
|
Lvht
|
Non-Compaction Of The Left Ventricular Myocardium
|
|
Ventricular Noncompaction, Left
|
Non-Compaction Cardiomyopathy
|
|
|
| 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
|
|
|
| Dilated Cardiomyopathy |
|
Familial Dilated Cardiomyopathy
|
Primary Dilated Cardiomyopathy
|
|
Idiopathic Dilated Cardiomyopathy
|
Congestive Cardiomyopathy
|
|
Idiopathic Dilation Cardiomyopathy
|
Primary Familial Dilated Cardiomyopathy
|
|
Cardiomyopathy, Dilated
|
DCM
|
|
Cardiomyopathy, Familial Dilated
|
Dilated Cardiomyopathy, Familial
|
|
Hypokinetic Dilated Cardiomyopathy, Familial
|
Familial Idiopathic Cardiomyopathy
|
|
Fdc
|
Cardiomyopathy, Familial Idiopathic
|
|
Idiopathic Cardiomegaly
|
Dilated Congestive Cardiomyopathy
|
|
Chronic Dilated Cardiomyopathy
|
Ccm - [Congestive Cardiomyopathy]
|
|
Cocm - [Congestive Cardiomyopathy]
|
Dcm - [Dilated Cardiomyopathy]
|
|
Dilated-Hypokinetic Cardiomyopathy
|
Congestive Idiopathic Cardiomyopathy
|
|
Primary Idiopathic Dilated Cardiomyopathy
|
|
|
| Mumps |
|
Parotitis Due To Mumps Virus
|
Mumps Nos
|
|
Epidemic Parotitis
|
Infectious Parotitis
|
|
|
| Lysosomal Glycogen Storage Disease |
|
|
| Glycogen Storage Disease Ii |
|
Pompe Disease
|
Glycogen Storage Disease Type Ii
|
|
Acid Maltase Deficiency
|
Gsd Ii
|
|
Gaa Deficiency
|
Alpha-1,4-Glucosidase Deficiency
|
|
Glycogenosis Type Ii
|
GSD2
|
|
Acid Alpha-Glucosidase Deficiency
|
Amd
|
|
Glycogen Storage Disease, Type Ii
|
Pompe'S Disease
|
|
Glycogen Storage Disease Type 2
|
Cardiomegalia Glycogenica Diffusa
|
|
Acid Maltase Deficiency Disease
|
Deficiency Of Alpha-Glucosidase
|
|
Glycogenosis, Generalized, Cardiac Form
|
Deficiency Of Glucoamylase
|
|
Deficiency Of Maltase
|
Generalized Glycogenosis
|
|
Glycogenosis, Type 2
|
Lysosomal Alpha-1,4-Glucosidase Deficiency
|
|
Glucosidase Acid-1,4-Alpha Deficiency
|
Aglucosidase Alfa
|
|
Deficiency Of Lysosomal Alpha-Glucosidase
|
Glycogen Storage Disease Due To Acid Maltase Deficiency
|
|
Alpha-1,4-Glucosidase Acid Deficiency
|
Gsd Due To Acid Maltase Deficiency
|
|
Gsd Type 2
|
Gsd Type Ii
|
|
Glycogenosis Due To Acid Maltase Deficiency
|
Glycogenosis Type 2
|
|
Glycogen Storage Disease 2
|
Cardiomegalia Glycogenica
|
|
Glycogenosis Generalized Cardiac Form
|
Glycogenosis Ii
|
|
Gsd-Ii
|
Storage Disease, Glycogen, Type Ii
|
|
Generalized Glycogen Storage Disease Of Infants
|
Cardiac Form Of Generalized Glycogenosis
|
|
|
| Glycogen Storage Disease |
|
Glycogenosis
|
Glycogenoses
|
|
Gsd
|
Storage Disease, Glycogen
|
|
Gsd - [Glycogen Storage Disease]
|
Glycogen Thesaurismosis
|
|
Diffuse Glycogenosis
|
Generalised Glycogen Storage Disease
|
|
Generalised Glycogenosis
|
Generalised Glycogen Storage Disease Of Infants
|
|
Glycogen Synthase Deficiency
|
|
|
| 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
|
|
|
| Phosphatase, Acid, Of Tissues |
|
Lysosomal Acid Phosphatase
|
Acp3--Alpha Polypeptide
|
|
|
| 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
|
|
|
| Hermansky-Pudlak Syndrome |
|
Hps
|
Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
|
|
Hermanski-Pudlak Syndrome
|
Hermansky Pudlak Syndrome
|
|
Platelet Storage Pool Deficiency
|
|
|
| Cystinosis |
|
Cystine Storage Disease
|
Cystine Diathesis
|
|
Cystine Disease
|
Cystinoses
|
|
Protein Defect Of Cystin Transport
|
Cystin Transport, Protein Defect Of
|
|
Nephropathic Cystinosis
|
Protein Defect Of Cystine Transport
|
|
|
| Myopathy, X-Linked, With Excessive Autophagy |
|
X-Linked Myopathy With Excessive Autophagy
|
Xmea
|
|
MEAX
|
Vacuolar Myopathy
|
|
|
| Myopathy |
|
Muscular Diseases
|
Myopathies
|
|
|
| Salla Disease |
|
SD
|
Sialuria, Finnish Type
|
|
Finnish Type Sialuria
|
Sialic Acid Storage Disease, Finnish Type
|
|
|
| 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
|
|
|
| Atrial Standstill 1 |
|
ATRST1
|
Atrial Cardiomyopathy With Heart Block
|
|
Cardiomyopathy, Familial, With Conduction Disturbance
|
Atrial Standstill, Digenic
|
|
Familial Cardiomyopathy With Conduction Disturbance
|
Standstill, Atrial, Type 1
|
|
Heart Block
|
Cardiomyopathies
|
|
Idiopathic Cardiomyopathy
|
Idiopathic Cardiopathy
|
|
Primary Myocardial Disease
|
Primary Cardiomyopathy
|
|
Myocardiopathy
|
Myocardosis
|
|
Primary Idiopathic Myocardial Disease
|
|
|
| Diamond-Blackfan Anemia 20 |
|
DBA20
|
Rps15a-Related Diamond-Blackfan Anemia
|
|
|
| Zellweger Syndrome |
|
Cerebrohepatorenal Syndrome
|
Zellweger Leukodystrophy
|
|
Zs
|
Congenital Iron Overload
|
|
Chr
|
Zws
|
|
Severe Pbd-Zsd
|
Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
|
|
|
| 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
|
|
|
| Sphingolipidosis |
|
|
| Niemann-Pick Disease, Type C2 |
|
NPC2
|
Niemann-Pick Disease Type C2
|
|
Niemann-Pick C2 Disease
|
Niemann-Pick Disease C2
|
|
|
| Crescentic Glomerulonephritis |
|
Idiopathic Crescentic Glomerulonephritis
|
|
|
| Acute Proliferative Glomerulonephritis |
|
Acute Glomerulonephritis With Lesion Of Proliferative Glomerulonephritis
|
Acute Post-Streptococcal Glomerulonephritis
|
|
|
| Niemann-Pick Disease, Type C1 |
|
Niemann-Pick Disease, Type C
|
NPC1
|
|
Niemann-Pick Disease, Type D
|
Niemann-Pick Disease Type C1
|
|
Niemann-Pick Disease With Cholesterol Esterification Block
|
Niemann-Pick Disease, Subacute Juvenile Form
|
|
Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia
|
Npc
|
|
Niemann-Pick Disease, Chronic Neuronopathic Form
|
Niemann-Pick Disease Without Sphingomyelinase Deficiency
|
|
Niemann-Pick Disease Type C
|
Niemann-Pick Disease Type D
|
|
Niemann-Pick C1 Disease
|
Niemann-Pick Disease C1
|
|
Niemann-Pick Disease Chronic Neuronopathic Form
|
Niemann-Pick Disease Nova Scotian Type
|
|
Niemann-Pick Disease Subacute Juvenile Form
|
Niemann-Pick Disease Type Ii
|
|
Niemann-Picks Disease Type C
|
|
|
| Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White Pattern
|
Wpw Syndrome
|
|
Anomalous Atrioventricular Excitation
|
Anomalous A-V Excitation
|
|
Ventricular Pre-Excitation With Arrhythmia
|
WPWS
|
|
Ventricular Familial Preexcitation Syndrome
|
Preexcitation Syndrome
|
|
Ventricular Preexcitation
|
Wpw - [Wolff-Parkinson- White] Syndrome
|
|
Pre-Excitation Syndrome
|
|
|
| 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
|
|
|
| Mucolipidosis |
|
|
| 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]
|
|
|
| Retinitis Pigmentosa 36 |
|
RP36
|
Retinitis Pigmentosa-36
|
|
Retinitis Pigmentosa, Type 36
|
|
|
| C Syndrome |
|
Opitz Trigonocephaly Syndrome
|
Trigonocephaly
|
|
Trigonocephaly Syndrome
|
Trigonocephaly C Syndrome
|
|
Opitz C Trigonocephaly
|
Opitz Trigonocephaly C Syndrome
|
|
Otcs
|
CSYN
|
|
|
| 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
|
|
|
| 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
|
|
|
| Dystonia |
|
Dystonic Disease
|
Dystonic Disorder
|
|
Dystonia Disorders
|
Neuroleptic Dyskinesia
|
|
|
| Niemann-Pick Disease |
|
Sphingomyelin/Cholesterol Lipidosis
|
Niemann-Pick Diseases
|
|
Lipoid Histiocytosis
|
Sphingomyelin Lipidosis
|
|
Sphingomyelinase Deficiency Disease
|
Lipid Histiocytosis
|
|
Neuronal Cholesterol Lipidosis
|
Neuronal Lipidosis
|
|
Npd
|
Sphingomyelinase Deficiency
|
|
Niemann-Pick Disease, Type A
|
|
|
| Restrictive Cardiomyopathy |
|
Familial Restrictive Cardiomyopathy
|
Cardiomyopathy, Restrictive
|
|
Cardiomyopathy, Constrictive
|
Primary Restrictive Cardiomyopathy
|
|
Rcm
|
Cardiomyopathy Restrictive
|
|
|
| Parkinson Disease, Late-Onset |
|
Parkinson Disease
|
Parkinson'S Disease
|
|
PD
|
PARK
|
|
Parkinson Disease, Susceptibility To
|
Late Onset Parkinson'S Disease
|
|
Late Onset Parkinson Disease
|
Paralysis Agitans
|
|
Primary Parkinsonism
|
Idiopathic Parkinson Disease
|
|
Parkinson'S
|
Parkinson Disease, Late-Onset, Susceptibility To
|
|
Parkinson Disease, Age Of Onset, Modifier
|
Lewy Body Parkinson Disease
|
|
Idiopathic Parkinson'S Disease
|
Pd - [Parkinson Disease]
|
|
Parkinson Disease Nos
|
Parkinson, Nos
|
|
Primary Parkinson Disease
|
|
|
| Rasopathy |
|
Ras/Mitogen-Activated Protein Kinase Syndrome
|
|
|
