| Diseases |
Alias |
|
| Dystonia 11, Myoclonic |
|
Myoclonic Dystonia
|
Myoclonus-Dystonia Syndrome
|
|
DYT11
|
Myoclonic Dystonia 11
|
|
Alcohol-Responsive Dystonia
|
Myoclonus, Hereditary Essential
|
|
Dystonia-11, Myoclonic
|
Myoclonus-Dystonia
|
|
Dystonia 11
|
Hereditary Essential Myoclonus
|
|
Dystonia, Alcohol-Responsive
|
Dyt-Sgce
|
|
Dystonia, Alcohol Responsive
|
Dystonia-11
|
|
Dystonia, Myoclonic
|
Dystonia, Myoclonic, Type 11
|
|
|
| Sgce Myoclonus-Dystonia |
|
Dystonia 11
|
Dyt11
|
|
Dyt-Sgce
|
|
|
| Myoclonus |
|
|
| Dystonia |
|
Dystonic Disease
|
Dystonic Disorder
|
|
Dystonia Disorders
|
Neuroleptic Dyskinesia
|
|
|
| Obsessive-Compulsive Disorder |
|
OCD
|
Obsessive-Compulsive Disorder, Susceptibility To
|
|
Anancastic Neurosis
|
Obsessive Compulsive Disorder
|
|
Anankastic Neurosis
|
Obsessive-Compulsive Neurosis
|
|
Obsessive Compulsive Behavior
|
|
|
| Movement Disease |
|
Movement Disorders
|
Movement Disorder
|
|
|
| Dystonia 12 |
|
DYT12
|
Rdp
|
|
Generalized Dystonia
|
Dystonia-12
|
|
Rapid-Onset Dystonia-Parkinsonism
|
Familial Dystonia
|
|
Dystonia Musculorum Deformans
|
Dystonic Disorders
|
|
Idiopathic Familial Dystonia
|
Dystonia-Parkinsonism, Rapid-Onset
|
|
Fragments Of Torsion Dystonia
|
Dyt-Atp1a3
|
|
Rapid-Onset Dystonia Parkinsonism
|
Rodp
|
|
Dystonia, Type 12
|
Dystonia 3, Torsion, X-Linked
|
|
Idiopathic Non-Familial Dystonia
|
Symptomatic Torsion Dystonia
|
|
Dystonia Disorders
|
|
|
| Hemidystonia |
|
|
| Focal Hand Dystonia |
|
Organic Writer'S Cramp
|
Dystonia, Focal, Task-Specific
|
|
|
| Gilles De La Tourette Syndrome |
|
Tourette Syndrome
|
Tourette Disorder
|
|
GTS
|
Ts
|
|
Gilles De La Tourette'S Syndrome
|
Motor-Verbal Tic Disorder
|
|
Guinon'S Disease
|
Psychogenic Tics
|
|
Tourette'S Syndrome
|
Chronic Motor And Vocal Tic Disorder
|
|
Td
|
Tourette'S Disease
|
|
Combined Vocal And Multiple Motor Tic Disorder [De La Tourette]
|
Combined Vocal And Multiple Motor Tic Disorder
|
|
Tic De La Tourette
|
|
|
| Cervical Dystonia |
|
|
| Segmental Dystonia |
|
|
| Multifocal Dystonia |
|
|
| Spasmodic Dystonia |
|
|
| Dystonia 1, Torsion, Autosomal Dominant |
|
Dystonia Musculorum Deformans 1
|
Dystonia Musculorum Deformans
|
|
DYT1
|
Early-Onset Torsion Dystonia
|
|
Eotd
|
Dystonia-1, Torsion
|
|
Torsion Dystonia 1
|
Autosomal Dominant Torsion Dystonia 1
|
|
Dystonia-1
|
Oppenheim'S Dystonia
|
|
Oppenheim-Ziehen Disease
|
Early Onset Torsion Dystonia
|
|
Dystonia 3, Torsion, X-Linked
|
|
|
| Leber Optic Atrophy And Dystonia |
|
LDYT
|
Marsden Syndrome
|
|
Leber Hereditary Optic Neuropathy With Dystonia
|
Leber Hereditary Optic Neuropathy And Dystonia
|
|
Familial Dystonia With Visual Failure And Striatal Lucencies
|
Dystonia, Familial, With Visual Failure And Striatal Lucencies
|
|
Leber Optic Atrophy With Dystonia
|
Dystonia Familial, With Visual Failure And Striatal Lucencies
|
|
Lhon And Dystonia
|
Leber'S Hereditary Optic Neuropathy With Dystonia
|
|
|
| Focal Dystonia |
|
Dystonia, Focal, Task-Specific
|
|
|
| Limb-Girdle Muscular Dystrophy |
|
Lgmd
|
Limb Girdle Muscular Dystrophy
|
|
Muscular Dystrophies, Limb-Girdle
|
Erb'S Muscular Dystrophy
|
|
Leyden-Mbius Muscular Dystrophy
|
Limb-Girdle Syndrome
|
|
Myopathic Limb-Girdle Syndrome
|
Limb Girdle
|
|
Muscular Dystrophy Limb-Girdle
|
Dystrophy, Muscular, Limb-Girdle
|
|
Lgmd - [Limb-Girdle Muscular Dystrophy]
|
Limb Girdle Muscle Dystrophy
|
|
Limb-Girdle Myopathy
|
|
|
| Dystonia 3, Torsion, X-Linked |
|
X-Linked Dystonia-Parkinsonism
|
DYT3
|
|
Xdp
|
Lubag
|
|
Dystonia-Parkinsonism, X-Linked
|
Torsion Dystonia-Parkinsonism, Filipino Type
|
|
Dyt-Taf1
|
X-Linked Dystonia-Parkinsonism Syndrome
|
|
X-Linked Torsion Dystonia-Parkinsonism Syndrome
|
Dystonia Musculorum Deformans
|
|
X-Linked Dystonia-Parkinsonism/Lubag
|
Lubag Syndrome
|
|
Dystonia-3
|
Torsion Dystonia-Parkinsonism Filipino Type
|
|
X-Linked Torsion Dystonia 3
|
Dystonia, Torsion, X-Linked, Type 3
|
|
|
| Dyskinetic Cerebral Palsy |
|
Athetoid Cerebral Palsy
|
Athetoid Dyskinetic Cerebral Palsy
|
|
Cerebral Palsy Athetoid
|
Cerebral Palsy Dyskinetic
|
|
Athetoid Cerebral Paralysis
|
Dyskinetic Cerebral Paralysis
|
|
Vogt Disease
|
Athetoid Cerebrum Palsy
|
|
Double Athetosis Syndrome
|
État Marbré
|
|
|
| Dystonia, Dopa-Responsive |
|
Dystonia 5
|
Dopa-Responsive Dystonia
|
|
DRD
|
Dyt5
|
|
Dystonia-Parkinsonism With Diurnal Fluctuation
|
Dyt-Th
|
|
Hpd With Diurnal Fluctuation
|
Hereditary Progressive Dystonia With Diurnal Fluctuation
|
|
Dystonia, Progressive, With Diurnal Variation
|
Segawa Syndrome, Autosomal Dominant
|
|
Dystonia, Dopa-Responsive, Autosomal Dominant
|
Dopa-Responsive Dystonia, Autosomal Dominant
|
|
Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia
|
Dyt-Gch1
|
|
Dyt-Spr
|
Dystonia 5, Dopa-Responsive Type
|
|
Hereditary Progressive Dystonia With Marked Diurnal Fluctuation
|
Autosomal Dominant Dopa-Responsive Dystonia
|
|
Autosomal Dominant Segawa Syndrome
|
Dystonia-5
|
|
Progressive Dystonia With Diurnal Fluctuation
|
Dystonia, Type 5, Dopa-Responsive Type
|
|
|
| Hereditary Lymphedema Ii |
|
Meige Syndrome
|
Meige Disease
|
|
Meige Lymphedema
|
Hereditary Lymphedema Type Ii
|
|
Lymphedema Hereditary Type 2
|
Lymphedema Praecox
|
|
Lymphedema, Hereditary, Ii
|
Blepharospasm-Oromandibular Dystonia Syndrome
|
|
Meige Dystonia
|
Meige'S Syndrome
|
|
Late-Onset Lymphedema
|
Lmph2
|
|
Lymphedema Preacox
|
Lymphedema, Late-Onset
|
|
Blepharospasm - Oromandibular Dystonia
|
Blepharospasm-Oromandibular Dystonia
|
|
Brueghel Syndrome
|
Idiopathic Blepharospasm-Oromandibular Dystonia Syndrome
|
|
Oral Facial Dystonia
|
Segmental Cranial Dystonia
|
|
Meigs Syndrome
|
|
|
| Blepharospasm |
|
|
| Oromandibular Dystonia |
|
|
| Conversion Disorder |
|
Conversion Hysteria Or Reaction
|
Conversion Hysterical Neurosis
|
|
Hysterical Neurosis, Conversion Type
|
Fnd
|
|
Functional Movement Disorder
|
Functional Neurological Disorder
|
|
Dissociative Disorder
|
|
|
| Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive |
|
Split Hand-Foot Malformation 1 With Sensorineural Hearing Loss
|
SHFM1D
|
|
Deafness, Congenital, With Split Hands And Feet
|
Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss
|
|
Congenital Deafness With Split Hands And Feet
|
Split Hand-Split Foot-Deafness Syndrome
|
|
Split Hand-Split Foot-Hearing Loss Syndrome
|
Congenital Deafness And Split Hands And Feet
|
|
Split-Hand/Foot Malformation, Type 1 With Sensorineural Hearing Loss
|
Split-Hand-Foot Malformation With Sensorineural Hearing Loss
|
|
|
| Lymphatic Malformation 5 |
|
Meige Syndrome
|
Meige Disease
|
|
Meige Lymphedema
|
Lymphedema Praecox
|
|
Lymphedema, Late-Onset
|
Late-Onset Lymphedema
|
|
LMPH2
|
Meigs Syndrome
|
|
LMPHM5
|
Lymphedema, Hereditary, Ii, Formerly
|
|
Lmph2, Formerly
|
Hereditary Lymphedema Ii
|
|
Demons-Meigs Syndrome
|
Hereditary Lymphedema Type Ii
|
|
Lymphedema, Hereditary, 2
|
Lymphedema, Hereditary, Ii
|
|
Meige'S Disease
|
|
|
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Gtp Cyclohydrolase I Deficiency
|
HPABH4B
|
|
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Gtp Cyclohydrolase I Deficiency
|
Bh4-Deficient Hyperphenylalaninemia B
|
|
Gtp Cyclohydrolase 1 Deficiency
|
Tetrahydrobiopterin-Deficient Hyperphenylalaninemia B
|
|
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Gtp Cyclohydrolase 1 Deficiency
|
Gtpch Deficiency
|
|
Hyperphenylalaninemia Due To Gtp Cyclohydrolase Deficiency
|
Atypical Severe Phenylketonuria Due To Gtp Cyclohydrolase I Deficiency
|
|
Gch1 Deficiency
|
Guanosine Triphosphate Cyclohydrolase I Deficiency
|
|
Hyperphenylalaninemia With Neopterin Deficiency
|
|
|
| Asperger Syndrome |
|
Asperger Disorder
|
Asperger Syndrome, Susceptibility To
|
|
|
| Paranoid Personality Disorder |
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Lgmd2b
|
Muscular Dystrophy, Limb-Girdle, Type 2b
|
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e
|
Beta-Sarcoglycanopathy
|
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y
|
Muscular Dystrophy, Limb-Girdle, Type 3
|
|
Lgmd3
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s
|
|
LGMDR2
|
Muscular Dystrophy, Limb-Girdle, Type 2s
|
|
Limb-Girdle Muscular Dystrophy Type 2b
|
Lgmd2e
|
|
Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency
|
Muscular Dystrophy, Limb-Girdle, Type 2e
|
|
Lgmd2s
|
Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency
|
|
Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency
|
Lgmd2y
|
|
Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine
|
Muscular Dystrophy, Limb-Girdle, Type 2y
|
|
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
|
|
Dysferlin-Related Lgmd R2
|
Lgmd Due To Dysferlin Deficiency
|
|
Lgmd Type 2b
|
Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency
|
|
Limb-Girdle Muscular Dystrophy 2b
|
Limb-Girdle Muscular Dystrophy, Type 2b
|
|
Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2
|
Dystrophy, Muscular, Limb-Girdle, Type 2b
|
|
Limb-Girdle Muscular Dystrophy, Type 2e
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d |
|
Alpha-Sarcoglycanopathy
|
Dmda2
|
|
Duchenne-Like Autosomal Recessive Muscular Dystrophy Type 2
|
Lgmd2d
|
|
Muscular Dystrophy, Limb-Girdle, Type 2d
|
Primary Adhalinopathy
|
|
|
| Alternating Hemiplegia Of Childhood |
|
Alternating Hemiplegia
|
Ahc
|
|
Alternating Hemiplegia Syndrome
|
Hemiplegia, Alternating, Of Childhood
|
|
Hemiplegia, Crossed
|
|
|
| Leukodystrophy, Hypomyelinating, 6 |
|
Habc
|
Hypomyelinating Leukodystrophy 6
|
|
HLD6
|
H-Abc
|
|
Hypomyelination With Atrophy Of Basal Ganglia And Cerebellum
|
Leukodystrophy, Hypomyelinating, With Atrophy Of The Basal Ganglia And Cerebellum
|
|
Hypomyelinating Leukodystrophy With Atrophy Of The Basal Ganglia And Cerebellum
|
HLD
|
|
Leukodystrophy, Hypomyelinating, Type 6
|
|
|
| Muscular Dystrophy |
|
Muscular Dystrophies
|
Congenital Md
|
|
Congenital Muscular Dystrophy
|
Cmd
|
|
Mdc
|
Dystrophy, Muscular
|
|
Gower'S Muscular Dystrophy
|
Progressive Musclular Dystrophy
|
|
Pseudohypertrophic Atrophy
|
Pseudohypertrophic Muscle Paralysis
|
|
Pseudohypertrophic Muscular Atrophy
|
Pseudohypertrophic Muscular Dystrophy
|
|
Pseudohypertrophic Paralysis
|
Pseudomuscular Hypertrophy
|
|
|
| Choreatic Disease |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy |
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
|
|
|
| Silver-Russell Syndrome 1 |
|
Silver-Russell Syndrome
|
Russell-Silver Syndrome
|
|
Silver-Russell Dwarfism
|
Rss
|
|
SRS1
|
Srs
|
|
Silver Russell Dwarfism
|
Russell Silver Syndrome
|
|
Silver Russell Syndrome
|
|
|
| Lesch-Nyhan Syndrome |
|
Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency
|
LNS
|
|
Hprt Deficiency
|
Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency
|
|
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency
|
X-Linked Hyperuricemia
|
|
Choreoathetosis Self-Mutilation Syndrome
|
Hprt1 Deficiency
|
|
Hprt Deficiency, Complete
|
Deficiency Of Imp Pyrophosphorylase
|
|
Hgprt Deficiency
|
Lesch-Nyhan Disease
|
|
Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency
|
Hg-Prt Deficiency
|
|
Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency
|
Lesch - Nyhan Syndrome
|
|
Hprt1 Disorders
|
Lesch Nyhan Syndrome
|
|
Complete Hprt Deficiency Complete
|
Lesch Nyhan Disease
|
|
Complete Hprt Deficiency
|
Deficiency Of Guanine Phosphoribosyltransferase
|
|
Deficiency Of Hypoxanthine Phosphoribosyltransferase
|
Hypoxanthine Phosphoribosyltransferase Deficiency
|
|
Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome
|
Juvenile Hyperuricemia Syndrome
|
|
Lnd
|
Primary Hyperuricemia Syndrome
|
|
Total Hprt Deficiency
|
Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency
|
|
X-Linked Primary Hyperuricemia
|
X-Linked Uric Aciduria Enzyme Defect
|
|
Hprt Complete Deficiency
|
Hprt Deficiency Grade Iv
|
|
Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency
|
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv
|
|
Hypoxanthine-Guanine Phosphoribosyltransferase 1 Deficiency
|
Hprt - [ Hypoxanthine-Guanine Phosphoribosyltransferase] Complete Deficiency
|
|
Total Hgprt - [Hypoxanthine-Guanine Phosphoribosyltransferase] Deficiency
|
|
|
| Epilepsy |
|
Epilepsy Syndrome
|
Epileptic Syndrome
|
|
Epilepsies
|
Symptomatic Epilepsies
|
|
Post Traumatic Epilepsy
|
Traumatic Epilepsy
|
|
Traumatic Epileptic
|
Epilepsy Due To Hippocampal Sclerosis
|
|
Epilepsy With Ammon'S Horn Sclerosis
|
Epilepsy Due To Cortical Dysplasia
|
|
Epilepsy Due To Neuronal Migration Disorders
|
|
|
| Beckwith-Wiedemann Syndrome |
|
Wiedemann-Beckwith Syndrome
|
BWS
|
|
Exomphalos-Macroglossia-Gigantism Syndrome
|
Emg Syndrome
|
|
Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation
|
Emg Abnormality
|
|
Wbs
|
Exomphalos Macroglossia Gigantism Syndrome
|
|
Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation
|
Macroglossia Exomphalos Gigantism
|
|
|
| Leber Plus Disease |
|
Leber Congenital Amaurosis
|
Lca
|
|
Leber'S Amaurosis
|
Leber'S Disease
|
|
Amaurosis Congenita Of Leber
|
Amaurosis Congenita Of Leber, Type 1
|
|
Lhon Plus Disease
|
Congenital Absence Of The Rods And Cones
|
|
Congenital Retinal Blindness
|
Crb
|
|
Congenital Amaurosis Of Retinal Origin
|
Leber'S Congenital Amaurosis
|
|
Leber Congenital Amaurosis 1
|
Leber'S Congenital Tapetoretinal Degeneration
|
|
Leber'S Congenital Tapetoretinal Dysplasia
|
Lca1
|
|
Leber Congenital Amaurosis Type 1
|
Retinal Blindness, Congenital
|
|
Amaurosis, Leber Congenital
|
Dysgenesis Neuroepithelialis Retinae
|
|
Hereditary Epithelial Dysplasia Of Retina
|
Hereditary Retinal Aplasia
|
|
Heredoretinopathia Congenitalis
|
Leber Abiotrophy
|
|
Leber Congenital Tapetoretinal Degeneration
|
Lebers Congenital Amaurosis
|
|
Optic Atrophy, Hereditary, Leber
|
|
|
