| Diseases |
Alias |
|
| Apical Myocardial Infarction |
|
|
| Hermansky-Pudlak Syndrome 5 |
|
HPS5
|
Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial
|
|
Delta Storage Pool Disease
|
Hermansky-Pudlak Syndrome, Type 5
|
|
Platelet Storage Pool Deficiency
|
Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
|
|
|
| Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Congenital Diarrhea 5 With Tufting Enteropathy
|
Congenital Tufting Enteropathy
|
|
DIAR5
|
Cte
|
|
Intestinal Epithelial Cell Dysplasia
|
Tufting Enteropathy
|
|
Ied
|
Intestinal Epithelial Dysplasia
|
|
Enteropathy, Congenital Tufting
|
Congenital Diarrhoea 5 With Tufting Enteropathy
|
|
Congenital Familial Intractable Diarrhea With Epithelial Or Epithelium Abnormalities
|
Congenital Familial Intractable Diarrhoea With Epithelial Or Epithelium Abnormalities
|
|
Congenital Enteropathy
|
Congenital Familial Intractable Diarrhea With Enterocytes Assembly Abnormalities
|
|
Non-Syndromic Congenital Tufting Enteropathy
|
Diarrhea, Type 5, With Tufting Enteropathy, Congenital
|
|
Intestinal Intraepithelial Neoplasia
|
|
|
| Storage Pool Platelet Disease |
|
Platelet Storage Pool Deficiency
|
Storage Pool Disease Of Platelets
|
|
Dense Body Defect
|
Platelet Dense Granule Deficiency
|
|
Platelet Storage Pool Defect
|
Platelet Storage Pool Diseases
|
|
Alpha Delta Granule Deficiency
|
Alpha Dense Granule Deficiency
|
|
Combined Alpha-Delta Platelet Storage Pool Deficiency
|
|
|
| Intellectual Developmental Disorder, Autosomal Dominant 13 |
|
MRD13
|
Mental Retardation, Autosomal Dominant 13
|
|
Mental Retardation, Autosomal Dominant 13, With Neuronal Migration Defects
|
Autosomal Dominant Non-Syndromic Intellectual Disability 13
|
|
Autosomal Dominant Intellectual Developmental Disorder 13
|
Autosomal Dominant Mental Retardation 13
|
|
Mental Retardation, Autosomal Dominant, Type 13
|
|
|
| Griscelli Syndrome, Type 1 |
|
Griscelli Syndrome Type 1
|
GS1
|
|
Griscelli Syndrome With Neurologic Impairment
|
Partial Albinism And Primary Neurologic Disease Without Hemophagocytic Syndrome
|
|
Griscelli Syndrome, Cutaneous And Neurologic Type
|
Griscelli-Prunieras Syndrome Type 1
|
|
Hypopigmentation-Neurologic Impairment Syndrome
|
Griscelli Syndrome With Neurological Impairment
|
|
Griscelli Syndrome, Cutaneous And Neurological Type
|
Pigmentary Dilution Of The Skin And Hair, The Presence Of Large Clumps Of Pigment In Hair Shafts
|
|
Griscelli Syndrome 1
|
Griscelli Syndrome With Primary Neurologic Impairment
|
|
|
| Spinocerebellar Ataxia 15 |
|
SCA15
|
Spinocerebellar Ataxia Type 15
|
|
Spinocerebellar Ataxia Type 16
|
Sca16
|
|
Spinocerebellar Ataxia Type 15/16
|
Spinocerebellar Ataxia 16, Formerly
|
|
Sca16, Formerly
|
Spinocerebellar Ataxia 16
|
|
Sca15/16
|
Ataxia, Spinocerebellar, Type 15
|
|
|
| Hermansky-Pudlak Syndrome 6 |
|
HPS6
|
Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial
|
|
Delta Storage Pool Disease
|
Hermansky-Pudlak Syndrome, Type 6
|
|
Platelet Storage Pool Deficiency
|
Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
|
|
|
| Brachydactyly, Type B1 |
|
Brachydactyly Type B1
|
Brachydactyly Type B
|
|
BDB1
|
Brachydactyly, Type B
|
|
Bdb
|
Brachydactyly B1
|
|
|
| Waardenburg Syndrome, Type 2a |
|
Waardenburg Syndrome Type 2a
|
WS2A
|
|
Waardenburg Syndrome, Type Iia
|
Waardenburg Syndrome Without Dystopia Canthorum
|
|
Ws2
|
Waardenburg Syndrome Type Iia
|
|
Waardenburg Syndrome 2a
|
|
|
| Mucolipidosis Iv |
|
Mucolipidosis Type Iv
|
ML4
|
|
Sialolipidosis
|
Mucolipidosis Type 4
|
|
Ganglioside Sialidase Deficiency
|
Mliv
|
|
Ml Iv
|
Berman Syndrome
|
|
Ganglioside Neuraminidase Deficiency
|
Ml 4
|
|
Mucolipidosis 4
|
Type Iv Mucolipidosis
|
|
Gangliosidoses
|
|
|
| Choroid Disease |
|
Choroid Diseases
|
Abnormality Of The Choroid
|
|
|
| Myopathy, X-Linked, With Excessive Autophagy |
|
X-Linked Myopathy With Excessive Autophagy
|
Xmea
|
|
MEAX
|
Vacuolar Myopathy
|
|
|
| Amme Complex |
|
Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis
|
ATS-MR
|
|
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
|
Chromosome Xq22.3 Telomeric Deletion Syndrome
|
|
Amme Syndrome
|
Alport Syndrome With Intellectual Disability, Midface Hypoplasia And Elliptocytosis
|
|
|
| Albinism, Oculocutaneous, Type Iii |
|
Rufous Oculocutaneous Albinism
|
Oculocutaneous Albinism Type 3
|
|
OCA3
|
Roca
|
|
Xanthism
|
Oculocutaneous Albinism Type Iii
|
|
Albinism Iii
|
Oculocutaneous Albinism, Type Iii
|
|
Albinism 3
|
Albinism, Oculocutaneous, Type 3
|
|
Rufous Oca
|
Red Oculocutaneous Albinism
|
|
Xanthous Oculocutaneous Albinism
|
Albinism, Oculocutaneous, 3
|
|
Oca-Iii
|
|
|
| Intrahepatic Cholestasis Of Pregnancy |
|
Recurrent Intrahepatic Cholestasis Of Pregnancy
|
Gravidic Intrahepatic Cholestasis
|
|
Pregnancy-Related Cholestasis
|
Icp
|
|
Pregnancy Related Cholestasis
|
Cholestasis, Intrahepatic Of Pregnancy
|
|
Familial Intrahepatic Cholestasis Of Pregnancy
|
Familial Recurrent Intrahepatic Cholestasis Of Pregnancy
|
|
Ricp
|
Obstetric Cholestasis
|
|
|
| Chediak-Higashi Syndrome |
|
CHS
|
Chédiak-Higashi Syndrome
|
|
Chediak - Steinbrinck Anomaly
|
Chediak Higashi Syndrome
|
|
Chediak-Steinbrinck-Higashi Syndrome
|
Oculocutaneous Albinism With Leukocyte Defect
|
|
Chediak-Higashi Disease
|
Chediak-Higashi-Steinbrink Syndrome
|
|
|
| Autosomal Recessive Cerebellar Ataxia |
|
|
| Hermansky-Pudlak Syndrome |
|
Hps
|
Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
|
|
Hermanski-Pudlak Syndrome
|
Hermansky Pudlak Syndrome
|
|
Platelet Storage Pool Deficiency
|
|
|
| Ocular Albinism |
|
Albinism, Ocular
|
Oa
|
|
Xloa
|
Albinism Ocular
|
|
|
| Griscelli Syndrome |
|
Chediak-Higashi-Like Syndrome
|
Griscelli-Prunieras Syndrome
|
|
Partial Albinism-Immunodeficiency Syndrome
|
Griscelli Disease
|
|
Gs
|
Hypopigmentation Immunodeficiency Disease
|
|
Partial Albinism With Immunodeficiency
|
Immunodeficiency Syndrome With Hypopigmentation
|
|
Hypopigmentation-Immunodeficiency Disease
|
|
|
| Carnitine Palmitoyltransferase I Deficiency |
|
Carnitine Palmitoyl Transferase 1a Deficiency
|
Cpt1a Deficiency
|
|
Cpt I Deficiency
|
Carnitine Palmitoyl Transferase Ia Deficiency
|
|
Hepatic Carnitine Palmitoyl Transferase 1 Deficiency
|
Hepatic Carnitine Palmitoyl Transferase I Deficiency
|
|
L-Cpt1 Deficiency
|
Carnitine Palmitoyltransferase 1a Deficiency
|
|
Carnitine Palmitoyltransferase Ia Deficiency
|
Cpt Deficiency, Hepatic, Type I
|
|
Cpt Deficiency, Hepatic, Type Ia
|
Hepatic Carnitine Palmitoyltransferase 1 Deficiency
|
|
L-Cpti Deficiency
|
Hepatic Cpt Deficiency Type I
|
|
Hepatic Cpt1
|
L-Cpt 1 Deficiency
|
|
Cpt 1a Deficiency
|
Liver Form Of Carnitine Palmitoyltransferase Deficiency
|
|
CPT1AD
|
Cpt-I Deficiency
|
|
|
| Disease Of Mental Health |
|
Mental Health
|
Mental Disorders
|
|
|
| Goldberg-Shprintzen Syndrome |
|
Goldberg-Shprintzen Megacolon Syndrome
|
GOSHS
|
|
Megacolon-Microcephaly Syndrome
|
|
|
| Propionic Acidemia |
|
Ketotic Hyperglycinemia
|
Propionyl-Coa Carboxylase Deficiency
|
|
Pcc Deficiency
|
Propionicacidemia
|
|
Glycinemia, Ketotic
|
Hyperglycinemia With Ketoacidosis And Leukopenia
|
|
Ketotic Glycinemia
|
Propionic Aciduria
|
|
Prop
|
Acidemia, Propionic
|
|
PA-1
|
Ketotic Ii Glycinemia
|
|
Hyperglycinemia, Ketotic
|
Propionic Acidemia Type I
|
|
Propionic Acidemia Type Ii
|
PA-2
|
|
Propionicaciduria
|
|
|
| Aspartylglucosaminuria |
|
Aspartylglycosaminuria
|
Glycosylasparaginase Deficiency
|
|
Aspartylglucosaminidase Deficiency
|
Aga Deficiency
|
|
AGU
|
Aspartylglucosamidase Deficiency
|
|
Glycoasparaginase
|
Aspartylglucosamidase Deficiency
|
|
Hyperammonemia, Type Iii
|
|
|
| Exostosis |
|
Osteophyte
|
Exostoses
|
|
Orbital Exostosis
|
Exostosis Of Orbit
|
|
Bone Spur
|
Bony Outgrowth
|
|
Swimmer'S Exostosis
|
Osteophytes
|
|
External Exotoses
|
Cartilaginous Exostosis
|
|
|
| Choroideremia |
|
CHM
|
Tcd
|
|
Progressive Tapetochoroidal Dystrophy
|
Choroidal Sclerosis
|
|
Tapetochoroidal Dystrophy, Progressive
|
Progressive Choroidal Atrophy
|
|
Tapetochoroidal Dystrophy
|
|
|
| Macular Degeneration, Age-Related, 1 |
|
Macular Degeneration
|
Age-Related Macular Degeneration
|
|
Macular Degeneration, Age-Related
|
Age Related Macular Degeneration
|
|
Age Related Macular Degeneration 1
|
ARMD1
|
|
Senile Macular Degeneration
|
Maculopathy, Age-Related, 1
|
|
Macular Degeneration, Age-Related, Reduced Risk Of
|
Age Related Maculopathy 1
|
|
Age Related Maculopathies
|
Age Related Maculopathy
|
|
Senile Macular Retinal Degeneration
|
Macular Degeneration Of Retina
|
|
Age-Related Maculopathy
|
Amd
|
|
Armd
|
Age-Related Maculopathy, Susceptibility To
|
|
Maculopathy Age-Related
|
Macular Degeneration, Age-Related, 1, Susceptibility To
|
|
Maculopathy, Age-Related
|
Macular Degeneration, Age-Related, Type 1
|
|
Macular Degeneration, Age-Related, 2
|
|
|
| Carotid Artery Disease |
|
Carotid Artery Diseases
|
Disorder Of Carotid Artery
|
|
|
| Congenital Diarrhea |
|
|
| Gray Platelet Syndrome |
|
Platelet Alpha-Granule Deficiency
|
GPS
|
|
Bdplt4
|
Bleeding Disorder, Platelet-Type, 4
|
|
Grey Platelet Syndrome
|
Platelet-Type Bleeding Disorder 4
|
|
Marked Decrease Or Absence Of Alpha-Granules And Of Platelet-Specific Alpha-Granule Proteins
|
Deficient Alpha Granule Syndrome
|
|
Platelet Alpha Granule Deficiency
|
Platelet Granule Defect
|
|
Alpha Storage Pool Deficiency
|
Bleeding Disorder Platelet-Type 4
|
|
|
| Cerebellar Disease |
|
Cerebellar Diseases
|
Cerebellar Dysfunction
|
|
Cerebellar Abnormality
|
Cerebellar Disorders
|
|
|
| Diaphragm Disease |
|
Abnormality Of The Diaphragm
|
Disease Of Diaphragm
|
|
Diaphragmatic Disorder
|
Disorder Of Diaphragm
|
|
|
| Multisystem Proteinopathy |
|
|
| 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
|
|
|
| Orofaciodigital Syndrome |
|
Oral-Facial-Digital Syndrome
|
Orofaciodigital Syndromes
|
|
Ofd
|
Oral Facial Digital Syndromes
|
|
Oral-Facial-Digital Syndromes
|
Dysplasia Linguofacialis
|
|
Ofds
|
Oro-Facio-Digital Syndrome
|
|
Orodigitofacial Dysostosis
|
Orodigitofacial Syndrome
|
|
Oral Facial Digital Syndrome
|
Orofaciodigital Syndrome I
|
|
|
| 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
|
|
|
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Arc Syndrome
|
ARCS1
|
|
Arthrogryposis Renal Dysfunction Cholestasis Syndrome
|
Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome
|
|
Arcs
|
Arthrogryposis, Renal Dysfunction And Cholestasis Syndrome
|
|
Arthrogryposis, Renal Dysfunction, And Cholestasis
|
Arthrogryposis-Renal Dysfunction-Cholestasis
|
|
Arthrogryposis - Renal Dysfunction - Cholestasis
|
Arthrogryposis Multiplex Congenita, Renal Dysfunction, And Cholestasis
|
|
Arthrogryposis, Renal Dysfunction And Cholestasis Syndrome 1
|
Arthrogryposis Renal Dysfunction And Cholestasis 1
|
|
Arthrogryposis With Renal Dysfunction And Cholestasis Syndrome
|
Arthrogryposis, Renal Dysfunction, Cholestasis, Type 1
|
|
Kidney Failure
|
Renal Insufficiency
|
|
|
| Spinocerebellar Ataxia 1 |
|
Spinocerebellar Ataxia Type 1
|
SCA1
|
|
Olivopontocerebellar Atrophy I
|
Opca1
|
|
Opca4
|
Menzel Type Opca
|
|
Schut-Haymaker Type Opca
|
Spinocerebellar Atrophy I
|
|
Opca I
|
Olivopontocerebellar Atrophy Iv
|
|
Opca Iv
|
Cerebelloparenchymal Disorder I
|
|
Cpd1
|
Olivopontocerebellar Atrophy 1
|
|
Cerebelloparenchymal Disorder 1
|
Olivopontocerebellar Atrophy 4
|
|
Spinocerebellar Atrophy 1
|
Type 1 Spinocerebellar Ataxia
|
|
Spinocerebellar Ataxia-1
|
Ataxia, Spinocerebellar, Type 1
|
|
|
| Megalocornea |
|
Isolated Congenital Megalocornea
|
Congenital Anterior Megalophthalmia
|
|
Anterior Megalophthalmos
|
Mgc1
|
|
Mgcn
|
Congenital Keratoglobus
|
|
|
| Piebald Trait |
|
Piebaldism
|
PBT
|
|
Partial Albinism
|
Albinoidism, Oculocutaneous, Autosomal Dominant
|
|
|
| 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
|
|
|
| Hereditary Ataxia |
|
Sca
|
Spinocerebellar Ataxia
|
|
Ataxias Hereditary
|
Ataxias, Hereditary
|
|
|
| Psychotic Disorder |
|
Psychotic Disorders
|
Mental Or Behavioural Disorder
|
|
Psychotic
|
Mental Disorders
|
|
|
| Eye Degenerative Disease |
|
|
| Peters-Plus Syndrome |
|
Krause-Kivlin Syndrome
|
Peters Plus Syndrome
|
|
Peters Anomaly
|
Irido-Corneo-Trabecular Dysgenesis
|
|
PTRPLS
|
Peters Anomaly With Short-Limb Dwarfism
|
|
Peters Anomaly-Short Limb Dwarfism Syndrome
|
Peters Anomaly With Short Limb Dwarfism
|
|
Peters Congenital Glaucoma
|
Krause-Van Schooneveld-Kivlin Syndrome
|
|
Peters' Plus Syndrome
|
Peters'-Plus Syndrome
|
|
Anomaly Peters
|
|
|
| Intrinsic Cardiomyopathy |
|
|
| Waardenburg'S Syndrome |
|
Waardenburg Syndrome
|
Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome
|
|
Van Der Hoeve Halbertsona Waardenburg Syndrome
|
Waardenburg Shah Syndrome
|
|
Waardenburg, Types I And/Or Ii
|
Mende Syndrome
|
|
Waardenburgs Syndrome
|
Waardenburg Syndrome, Type 4a
|
|
|
| Mucolipidosis |
|
|
| 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
|
|
|
| Japanese Encephalitis |
|
Japanese B Encephalitis
|
Je
|
|
Encephalitis Japanese
|
Encephalitis, Japanese
|
|
Russian Autumnal Encephalitis
|
Je - [Japanese Encephalitis]
|
|
Japanese Encephalitis Virus Disease
|
Jbe - [Japanese B Encephalitis}
|
|
B Type Encephalitis
|
|
|
| Menkes Disease |
|
Copper Transport Disease
|
Menkes Syndrome
|
|
MNK
|
Kinky Hair Disease
|
|
Steely Hair Disease
|
Menkes Kinky-Hair Syndrome
|
|
Mk
|
Steely Hair Syndrome
|
|
Menkea Syndrome
|
Md
|
|
Menkes Kinky Hair Syndrome
|
Hypocupremia, Congenital
|
|
Kinky Hair Syndrome
|
X-Linked Copper Deficiency
|
|
Menkes Kinky Hair Disease
|
|
|
| Loeys-Dietz Syndrome |
|
Loeys-Dietz Aortic Aneurysm Syndrome
|
Lds
|
|
Aortic Aneurysm Syndrome Due To Tgf-Beta Receptors Anomalies
|
Furlong Syndrome
|
|
|
| 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
|
|
|
| Inherited Metabolic Disorder |
|
Inborn Errors Of Metabolism
|
Inborn Metabolic Disorder
|
|
Inborn Metabolism Disorder
|
Metabolic Hereditary Disorder
|
|
Inborn Error Of Metabolism
|
Metabolism, Inborn Errors
|
|
|
| Diaphragmatic Hernia, Congenital |
|
Congenital Diaphragmatic Hernia
|
Diaphragmatic Hernia
|
|
Cdh
|
Congenital Diaphragmatic Defect
|
|
Hernia, Diaphragmatic
|
Dih
|
|
Hernia, Congenital Diaphragmatic
|
Hcd
|
|
Diaphragmatic Defect, Congenital
|
Diaphragm, Unilateral Agenesis Of
|
|
Hemidiaphragm, Agenesis Of
|
Diaphragmatic Hernia 1
|
|
Agenesis Of Hemidiaphragm
|
Unilateral Agenesis Of Diaphragm
|
|
Hernia Diaphragmatic
|
Hernia Diaphragmatic Congenital
|
|
Hernia, Diaphragmatic, Type 1
|
Hiatus Hernia
|
|
Oesophageal Hiatus Hernia
|
Paraoesophageal Hernia
|
|
Sliding Hiatus Hernia
|
Congenital Diaphragm Hernia
|
|
Congenital Diaphragm Defect With Hernia
|
Gross Congenital Diaphragm Defect
|
|
|
| Primary Angle-Closure Glaucoma |
|
Primary Angle Closure Glaucoma
|
Angle Closure Glaucoma
|
|
Acg - [Angle Closure Glaucoma]
|
Angle-Closure Glaucoma
|
|
Closed Angle Glaucoma
|
Acute Glaucoma
|
|
Prodromal Angle Closure Glaucoma
|
|
|
| Chromosome 22q11.2 Deletion Syndrome, Distal |
|
22q11.2 Deletion Syndrome
|
Autosomal Dominant Opitz G/Bbb Syndrome
|
|
Catch22
|
Cayler Cardiofacial Syndrome
|
|
Conotruncal Anomaly Face Syndrome
|
Digeorge Syndrome
|
|
Sedlackova Syndrome
|
Shprintzen Syndrome
|
|
Velocardiofacial Syndrome
|
22q11.2 Distal Deletion Syndrome
|
|
Distal 22q11.2 Microdeletion Syndrome
|
22q11.2ds
|
|
Vcfs
|
Velo-Cardio-Facial Syndrome
|
|
Distal Chromosome 22q11.2 Deletion Syndrome
|
Chromosome 22q11.2 Deletion Syndrome Distal
|
|
Chromosome 22q11.2 Deletion Syndrome
|
Deletion 22q11.2 Syndrome
|
|
22q11ds
|
Catch 22
|
|
Digeorge Sequence
|
Microdeletion 22q11.2
|
|
Monosomy 22q11
|
Takao Syndrome
|
|
Distal Del(22)(Q11.2)
|
Distal Monosomy 22q11.2
|
|
Catch 22 Syndrome
|
Chromosome Deletion Syndrome 22q11.2, Distal
|
|
|
| Sensory System Disease |
|
|
| Degeneration Of Macula And Posterior Pole |
|
Degeneration Of Macula And Posterior Pole Of Retina
|
Degeneration Of Macula Or Posterior Pole
|
|
Macular Degeneration Nos
|
Degenerative Disorder Of Macula
|
|
Drusen Macular Degeneration
|
Posterior Pole Macular Degeneration Of Eye
|
|
Macular Eye Degeneration
|
Macular Degeneration Of Retina, Unspecified
|
|
Pseudohole Degeneration Of Macula Of Retina
|
|
|
| Schizophrenia |
|
SCZD
|
Schizophrenia With Or Without An Affective Disorder
|
|
Schizophrenia 12
|
Schizophrenia, Susceptibility To
|
|
Schizophrenia-1
|
Dementia Praecox
|
|
Schizophrenia 1
|
|
|
| Overnutrition |
|
|
| Glucose Metabolism Disease |
|
Glucose Metabolism Disorders
|
Disorder Of Glucose Metabolism
|
|
|
| Carbohydrate Metabolic Disorder |
|
Inborn Errors Of Carbohydrate Metabolism
|
Disorder Of Carbohydrate Metabolism
|
|
Carbohydrate Metabolism, Inborn Errors
|
Disorder Of Carbohydrate Transport And Metabolism
|
|
Inborn Carbohydrate Metabolism Disorder
|
Inborn Carbohydrate Metabolic Disorder
|
|
Carbohydrate Metabolism Disorder
|
Carbohydrate Metabolism Disorders
|
|
Disorders Of Carbohydrate Metabolism
|
Congenital Disorders Of Carbohydrate Metabolism
|
|
Inherited Disorders Of Carbohydrate Metabolism
|
|
|
| Acquired Metabolic Disease |
|
|
| Sphingolipidosis |
|
|
| Pervasive Developmental Disorder |
|
Pervasive Development Disorder
|
Pervasive Developmental Disorders
|
|
Pervasive Child Development Disorders
|
Autistic Behavior
|
|
Autism Spectrum Disorders
|
|
|
| Refractive Error |
|
|
| Lipid Storage Disease |
|
Lipoidosis
|
Inborn Lipid Storage Disorder
|
|
Lipoid Storage Diseas
|
Lipid Storage Diseases
|
|
Lipidoses
|
|
|
| Muscular Disease |
|
|
| Amino Acid Metabolic Disorder |
|
Amino Acid Metabolism, Inborn Errors
|
Inborn Errors Of Amino Acid Metabolism
|
|
Disorder Of Amino Acid Metabolism
|
Amino Acid Metabolism Disorders
|
|
|
| Physical Disorder |
|
|
| Eye Disease |
|
Eye Diseases
|
Abnormality Of The Eye
|
|
Toxoplasma Oculopathy
|
|
|
| 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
|
|
|
| Nervous System Disease |
|
Abnormality Of The Nervous System
|
Nervous System Diseases
|
|
Nervous System Disorder
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| Body Mass Index Quantitative Trait Locus 11 |
|
OBESITY
|
Obesity, Susceptibility To
|
|
Leanness, Inherited
|
Obesity, Susceptibility To, Bmiq11
|
|
Obesity, Mild, Early-Onset
|
Obesity, Association With
|
|
Obesity, Early-Onset, Susceptibility To
|
Obesity, Severe
|
|
Obesity, Severe, And Type Ii Diabetes
|
Obesity, Late-Onset
|
|
Obesity , Susceptibility To
|
BMIQ11
|
|
Obesity Bmiq11
|
Obesity, Early-Onset
|
|
Simple Obesity Nos
|
Excess Fat
|
|
Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified
|
Adiposis
|
|
|
| Usher Syndrome |
|
Deafness-Retinitis Pigmentosa Syndrome
|
Dystrophia Retinae Pigmentosa-Dysostosis Syndrome
|
|
Graefe-Usher Syndrome
|
Hallgren Syndrome
|
|
Usher'S Syndrome
|
Retinitis Pigmentosa-Deafness Syndrome
|
|
Retinitis Pigmentosa-Hearing Loss Syndrome
|
Ush
|
|
Usher Syndromes
|
|
|
| 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
|
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic Lateral Sclerosis
|
ALS
|
|
Lou Gehrig Disease
|
Amyotrophic Lateral Sclerosis Type 1
|
|
Charcot Disease
|
ALS1
|
|
Amyotrophic Lateral Sclerosis, Susceptibility To
|
Fals
|
|
Lou Gehrig'S Disease
|
Mnd
|
|
Motor Neuron Disease
|
Familial Amyotrophic Lateral Sclerosis
|
|
Amyotrophic Lateral Sclerosis 1, Familial
|
Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
|
|
Motor Neuron Disease, Bulbar
|
Motor Neurone Disease
|
|
Amyotrophic Lateral Sclerosis With Dementia
|
Dementia With Amyotrophic Lateral Sclerosis
|
|
Motor Neuron Disease, Amyotrophic Lateral Sclerosis
|
Sclerosis, Lateral, Amyotrophic
|
|
Sclerosis, Lateral, Amyotrophic, Type 1
|
Amyotrophic Sclerosis
|
|
Als - [Amyotrophic Lateral Sclerosis]
|
Wasting Palsy
|
|
Amyotrophic Paralysis
|
Amyotrophy Lateral Sclerosis
|
|
Wasting Paralysis
|
Spinal Progressive Amyotrophy
|
|
Progressive Atrophic Paralysis
|
|
|
| Leigh Syndrome |
|
Leigh Disease
|
Infantile Subacute Necrotizing Encephalopathy
|
|
Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency
|
LS
|
|
Sne
|
Leigh'S Disease
|
|
Leigh Syndrome Due To Mitochondrial Complex I Deficiency
|
Necrotizing Encephalopathy, Infantile Subacute, Of Leigh
|
|
Subacute Necrotizing Encephalomyelopathy
|
Necrotizing Encephalopathy Infantile Subacute Of Leigh
|
|
Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency
|
Infantile Necrotizing Encephalomyelopathy
|
|
Juvenile Subacute Necrotizing Encephalomyelopathy
|
Leigh'S Necrotizing Encephalopathy
|
|
Subacute Necrotizing Encephalopathy
|
Juvenile Subacute Necrotizing Encephalopathy
|
|
Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency
|
Leigh Syndrome Due To Mitochondrial Complex V Deficiency
|
|
Encephalopathy, Subacute Necrotizing, Infantile
|
Encephalopathy, Subacute Necrotizing, Juvenile
|
|
Maternally Inherited Leigh Syndrome
|
Subacute Necrotising Encephalomyelopathy
|
|
Subacute Necrotising Encephalopathy
|
|
|
| Peripheral Nervous System Disease |
|
Peripheral Neuropathy
|
Peripheral Nerve Disease
|
|
Peripheral Nerve Disorders
|
Neuropathy, Peripheral
|
|
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
|
|
|
| Myopathy |
|
Muscular Diseases
|
Myopathies
|
|
|
| Type 2 Diabetes Mellitus |
|
Insulin Resistance
|
NIDDM
|
|
Type 2 Diabetes
|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
T2D
|
Noninsulin-Dependent Diabetes Mellitus
|
|
Diabetes Mellitus, Type Ii
|
Maturity-Onset Diabetes
|
|
Insulin Resistance, Severe, Digenic
|
Diabetes Mellitus, Type 2
|
|
Diabetes Mellitus, Noninsulin-Dependent
|
Diabetes Mellitus, Noninsulin-Dependent, Association With
|
|
Diabetes Mellitus, Noninsulin-Dependent, Late Onset
|
Hypertension, Insulin Resistance-Related, Susceptibility To
|
|
Insulin Resistance, Susceptibility To
|
Non-Insulin-Dependent Diabetes Mellitus
|
|
Type Ii Diabetes Mellitus
|
Adult-Onset Diabetes Mellitus
|
|
Maturity-Onset Diabetes Mellitus
|
Diabetes Mellitus Type 2
|
|
Type Ii Diabetes
|
Type 2 Diabetes Mellitus, Susceptibility To
|
|
Diabetes, Type 2
|
Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To
|
|
Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To
|
Diabetes Mellitus, Type 2, Susceptibility To
|
|
Diabetes Mellitus, Noninsulin-Dependent, 2
|
Diabetes Mellitus, Type Ii, Susceptibility To
|
|
Hypertension, Insulin Resistance-Related
|
Adult-Onset Diabetes
|
|
Aodm
|
Diabetes Mellitus, Adult-Onset
|
|
Diabetes Mellitus Type Ii
|
Diabetes Mellitus Type 2, Susceptibility To
|
|
Diabetes, Type Ii, Susceptibility To
|
Diabetes Type 2
|
|
Diabetes Mellitus
|
Adult Onset Diabetes
|
|
Maturity Onset Diabetes
|
Nonketotic Diabetes
|
|
Non-Insulin Dependent Diabetes Mellitus
|
T2dm - [Type 2 Diabetes Mellitus]
|
|
Niddm - [Non Insulin Dependent Diabetes Mellitus]
|
Dm2
|
|
Dm Type Ii
|
Diabetic Type 2
|
|
Insulin Requiring Type 2 Diabetes
|
Noninsulin Dependent Diabetes
|
|
Non-Insulin-Dependent Diabetes Mellitus Without Complications
|
Diabetes Due To Insulin Secretory Defect
|
|
Diabetes Mellitus Due To Insulin Secretory Defect
|
Non-Insulin-Dependent Diabetes Of The Young
|
|
Senile Diabetes
|
Nonketotic Hyperglycaemia
|
|
Stable Diabetes
|
|
|
| Alzheimer Disease, Familial, 1 |
|
Alzheimer Disease
|
Alzheimer'S Disease
|
|
Presenile And Senile Dementia
|
AD1
|
|
Alzheimer Disease, Susceptibility To
|
Alzheimer Disease, Late-Onset, Susceptibility To
|
|
Alzheimer Disease 1, Familial
|
AD
|
|
Familial Alzheimer Disease
|
Alzheimer Disease, Late-Onset
|
|
Alzheimers Dementia
|
Alzheimer Dementia
|
|
Alzheimer Sclerosis
|
Alzheimer Syndrome
|
|
Alzheimer-Type Dementia
|
Dat
|
|
Primary Senile Degenerative Dementia
|
Sdat
|
|
Alzheimer Disease 1
|
Autosomal Dominant Alzheimer Disease
|
|
Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy
|
Late Onset Alzheimer Disease
|
|
Alzheimers Disease
|
Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
|
|
Late-Onset Alzheimers Disease
|
Alzheimer'S Disease Pathway Kegg
|
|
Dementia Due To Alzheimer'S Disease
|
Alzheimer Disease Type 1
|
|
Alzheimers
|
|
|
| Leukemia, Acute Myeloid |
|
Acute Myeloid Leukemia
|
Leukemia, Acute Myelogenous
|
|
Acute Myelogenous Leukemia
|
AML
|
|
Leukemia, Acute Myeloid, Susceptibility To
|
Acute Myeloblastic Leukemia
|
|
Leukemia, Acute Myeloid, Reduced Survival In, Somatic
|
Acute Myeloid Leukaemia
|
|
Leukemia, Myelocytic, Acute
|
Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome
|
|
Secondary Aml
|
Acute Myelocytic Leukemia
|
|
Acute Myeloid Leukemia, Somatic
|
Leukemia, Acute Myeloid, Somatic
|
|
Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic
|
Acute Myeloblastic Leukaemia
|
|
Acute Myelogenous Leukaemia
|
Aml - Acute Myeloid Leukemia
|
|
Acute Myeloid Leukemia With Cebpa Somatic Mutations
|
Aml With Cebpa Somatic Mutations
|
|
Inherited Acute Myeloid Leukemia
|
Familial Aml
|
|
Inherited Aml
|
Pure Familial Aml
|
|
Pure Familial Acute Myeloid Leukemia
|
Secondary Acute Myeloid Leukemia
|
|
Therapy-Related Aml And Myelodysplastic Syndrome
|
Acute Myeloid Leukemia, Secondary
|
|
Acute Non-Lymphoblastic Leukemia
|
Acute Non-Lymphocytic Leukemia
|
|
Acute Biphenotypic Leukemia
|
Acute Undifferentiated Leukemia
|
|
Acute Myeloblastic Leukaemia With Multilineage Dysplasia
|
Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission
|
|
Acute Myeloid Leukaemia With Myelodysplasia-Related Features
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
