| Diseases |
Alias |
|
| 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
|
|
|
| Spinocerebellar Ataxia 29 |
|
Spinocerebellar Ataxia Type 29
|
SCA29
|
|
Cnpca
|
Cerebellar Vermis Aplasia
|
|
Aplasia Of Cerebellar Vermis
|
Acv
|
|
Cerebellar Ataxia, Congenital Nonprogressive, Autosomal Dominant
|
Spinocerebellar Ataxia 29, Congenital Nonprogressive
|
|
Congenital Nonprogressive Spinocerebellar Ataxia
|
Autosomal Dominant Congenital Nonprogressive Cerebellar Ataxia
|
|
Ataxia, Spinocerebellar, Type 29, Congenital Nonprogressive
|
Familial Aplasia Of The Vermis
|
|
|
| Gillespie Syndrome |
|
GLSP
|
Aniridia, Cerebellar Ataxia And Mental Deficiency
|
|
Aniridia Cerebellar Ataxia Mental Deficiency
|
Aniridia, Cerebellar Ataxia, And Mental Retardation
|
|
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
|
Aniridia-Cerebellar Ataxia-Intellectual Disability
|
|
Aniridia-Cerebellar Ataxia-Mental Deficiency
|
Partial Aniridia-Cerebellar Ataxia-Oligophrenia
|
|
Aniridia, Cerebellar Ataxia, And Intellectual Disability
|
|
|
| Spinocerebellar Ataxia 30 |
|
Spinocerebellar Ataxia Type 30
|
SCA30
|
|
Cerebellar Ataxia Early-Onset Nonprogressive
|
Spinocerebellar Ataxia 29
|
|
Acv
|
Aplasia Of Cerebellar Vermis
|
|
Cerebellar Vermis Aplasia
|
Congenital Nonprogressive Spinocerebellar Ataxia
|
|
Sca29
|
Spinocerebellar Ataxia Type 29
|
|
|
| Anterior Segment Dysgenesis |
|
Anterior Segment Developmental Anomaly
|
Anterior Segment Mesenchymal Dysgenesis
|
|
Corneal Opacification And Other Ocular Anomalies
|
Sclerocornea With Other Ocular Anomalies
|
|
Asmd
|
Asod
|
|
Anterior Segment Ocular Dysgenesis
|
Foxe3-Related Ocular Disorder
|
|
Familial Ocular Anterior Segment Mesenchymal Dysgenesis
|
Dysgenesis, Anterior Segment
|
|
Irido-Corneal Dysgenesis
|
Axenfeld-Rieger Syndrome, Type 3
|
|
|
| Anterior Segment Dysgenesis 1 |
|
Anterior Segment Mesenchymal Dysgenesis
|
Anterior Segment Dysgenesis 1, Multiple Subtypes
|
|
ASGD1
|
Asmd
|
|
Anterior Segment Ocular Dysgenesis
|
Asod
|
|
Familial Ocular Anterior Segment Mesenchymal Dysgenesis
|
Ocular Anterior Segment Dysgenesis
|
|
Dysgenesis, Anterior Segment, Type 1
|
Axenfeld-Rieger Syndrome, Type 3
|
|
Irido-Corneal Dysgenesis
|
|
|
| Spastic Ataxia |
|
|
| Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Ataxic Cerebral Palsy
|
Acp
|
|
Hypotonic Cerebral Palsy
|
Cerebral Palsy Ataxic
|
|
Cerebral Palsy, Atonic
|
Congenital Cerebral Palsy With Ataxia
|
|
Ataxic Cerebral Paralysis
|
Ataxia With Cerebral Palsy
|
|
Cerebral Infantile Diataxia
|
|
|
| Hereditary Ataxia |
|
Sca
|
Spinocerebellar Ataxia
|
|
Ataxias Hereditary
|
Ataxias, Hereditary
|
|
|
| Autosomal Dominant Cerebellar Ataxia |
|
Spinocerebellar Ataxia
|
Adca
|
|
Pierre Marie Cerebellar Ataxia
|
Ataxia, Spinocerebellar
|
|
Sca
|
Autosomal Dominant Spinocerebellar Ataxia
|
|
Spinocerebellar Ataxias
|
|
|
| Anhidrosis, Isolated, With Normal Sweat Glands |
|
Isolated Anhidrosis With Normal Sweat Glands
|
Dann-Epstein-Sohar Syndrome
|
|
ANHD
|
Isolated Generalized Anhidrosis With Normal Sweat Glands
|
|
Anhidrosis, Familial Generalized, With Normal Sweat Glands
|
|
|
| Spinocerebellar Ataxia 26 |
|
Spinocerebellar Ataxia Type 26
|
SCA26
|
|
Ataxia, Spinocerebellar, Type 26
|
|
|
| Cerebellar Ataxia Type 42 |
|
|
| Huntington Disease |
|
Huntington'S Disease
|
Huntington Chorea
|
|
Huntington'S Chorea
|
HD
|
|
Huntington Chronic Progressive Hereditary Chorea
|
Juvenile Huntington Disease
|
|
Chronic Progressive Chorea
|
Chronic Progressive Hereditary Chorea
|
|
Hc - [Huntington Chorea]
|
Hereditary Chorea
|
|
Progressive Hereditary Chorea
|
|
|
| Fragile X Syndrome |
|
FXS
|
Martin-Bell Syndrome
|
|
Fraxa Syndrome
|
Marker X Syndrome
|
|
X-Linked Mental Retardation And Macroorchidism
|
Fragile X Mental Retardation Syndrome
|
|
Fra Syndrome
|
Mental Retardation, X-Linked, Associated With Marxq28
|
|
X-Linked Intellectual Disability And Macroorchidism
|
Frax Syndrome
|
|
Symptomatic Form Of Fragile X Syndrome In Female Carriers
|
Fragile-X Syndrome
|
|
Fraxe Syndrome
|
|
|
| Cerebral Palsy |
|
Infantile Cerebral Palsy
|
Mixed Cerebral Palsy
|
|
Palsy Cerebral
|
Palsy, Cerebral
|
|
Cerebral Palsy, Mixed
|
|
|
| Wolfram Syndrome 2 |
|
|
| Immunodeficiency 10 |
|
Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 2
|
Combined Immunodeficiency Due To Stim1 Deficiency
|
|
IMD10
|
Stim1 Deficiency
|
|
Cid Due To Stim1 Deficiency
|
Immune Dysfunction, With T-Cell Inactivation Due To Calcium Entry Defect 2
|
|
Immunodeficiency, Type 10
|
|
|
| T Cell And Nk Cell Immunodeficiency |
|
|
| Spinocerebellar Ataxia 5 |
|
Spinocerebellar Ataxia Type 5
|
SCA5
|
|
Spinocerebellar Ataxia-5
|
Ataxia, Spinocerebellar, Type 5
|
|
|
| Cerebellar Disease |
|
Cerebellar Diseases
|
Cerebellar Dysfunction
|
|
Cerebellar Abnormality
|
Cerebellar Disorders
|
|
|
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
SCAR4
|
Scasi
|
|
Spinocerebellar Ataxia With Saccadic Intrusions
|
Autosomal Recessive Cerebellar Ataxia-Saccadic Intrusion Syndrome
|
|
Spinocerebellar Ataxia 24
|
Autosomal Recessive Spinocerebellar Ataxia 4
|
|
Sca24
|
Spinocerebellar Ataxia 24, Formerly
|
|
Sca24, Formerly
|
Spinocerebellar Ataxia Autosomal Recessive 4
|
|
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
|
|
|
| Spinocerebellar Ataxia 40 |
|
Spinocerebellar Ataxia Type 40
|
SCA40
|
|
Ataxia, Spinocerebellar, Type 40
|
|
|
| Episodic Ataxia, Type 2 |
|
Episodic Ataxia Type 2
|
EA2
|
|
Apca
|
Capa
|
|
Cerebellopathy, Hereditary Paroxysmal
|
Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia
|
|
Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive
|
Episodic Ataxia With Nystagmus
|
|
Ataxia, Episodic, With Nystagmus
|
Episodic Ataxia, Nystagmus-Associated
|
|
Ataxia, Familial Paroxysmal
|
Acetazolamide-Responsive Episodic Ataxia Syndrome
|
|
Acetazolamide-Responsive, Hereditary, Paroxysmal, Cerebellar Ataxia
|
Ataxia, Familial, Paroxysmal
|
|
Nystagmus-Associated Episodic Ataxia
|
Familial Paroxysmal Ataxia
|
|
Episodic Ataxia 2
|
Ea-2
|
|
Episodic Ataxia Nystagmus-Associated
|
Hereditary Paroxysmal Cerebellopathy
|
|
Ataxia, Episodic, Type 2
|
|
|
| Spinocerebellar Ataxia, X-Linked 3 |
|
Scax3
|
X-Linked Spinocerebellar Ataxia 3
|
|
X-Linked Ataxia-Deafness Syndrome
|
X-Linked Spinocerebellar Ataxia Type 3
|
|
Ataxia-Deafness Syndrome, X-Linked
|
Spinocerebellar Ataxia X-Linked Type 3
|
|
Ataxia-Deafness Syndrome X-Linked
|
X-Linked Ataxia-Hearing Loss Syndrome
|
|
Spinocerebellar Ataxia, X-Linked, 3
|
|
|
| Spinocerebellar Ataxia, X-Linked 4 |
|
Scax4
|
X-Linked Spinocerebellar Ataxia 4
|
|
X-Linked Ataxia-Dementia Syndrome
|
X-Linked Spinocerebellar Ataxia Type 4
|
|
Ataxia-Dementia Syndrome, X-Linked
|
Spinocerebellar Ataxia X-Linked Type 4
|
|
Ataxia-Dementia Syndrome X-Linked
|
Spinocerebellar Ataxia, X-Linked, 4
|
|
|
| Dentatorubral-Pallidoluysian Atrophy |
|
DRPLA
|
Naito-Oyanagi Disease
|
|
Haw River Syndrome
|
Myoclonic Epilepsy With Choreoathetosis
|
|
Nod
|
Ataxia, Chorea, Seizures, And Dementia
|
|
Dentatorubropallidoluysian Atrophy
|
Hrs
|
|
Naito Oyanagi Disease
|
Dentatorubral Pallidoluysian Atrophy
|
|
Dentatorubro-Pallidoluysian Atrophy
|
Myoclonic Epilepsies, Progressive
|
|
Atrophy, Pallidoluysian, Dentatorubral
|
|
|
| Malignant Hyperthermia |
|
Anesthesia Related Hyperthermia
|
Malignant Hyperpyrexia Due To Anesthesia
|
|
Hyperpyrexia, Malignant
|
Hyperthermia, Malignant
|
|
Malignant Hyperpyrexia
|
Mhs
|
|
Malignant Fever
|
|
|
| Episodic Ataxia |
|
Isaacs Syndrome
|
Neuromyotonia
|
|
Isaacs' Syndrome
|
Acquired Neuromyotonia
|
|
Continuous Muscle Fiber Activity Syndrome
|
Quantal Squander Syndrome
|
|
Isaacs-Mertens Syndrome
|
Ea Syndrome
|
|
Episodic Ataxia Syndrome
|
Isaac Syndrome
|
|
Isaac'S-Merten'S Syndrome
|
Isaac-Mertens Syndrome
|
|
Peripheral Nerve Hyperexcitability
|
Ea
|
|
Peripheral Nerve Hyperexcitability Syndrome
|
Ataxia, Episodic
|
|
Isaacs Neuromyotonia
|
Continuous Muscle Fibre Activity
|
|
|
| Aniridia 1 |
|
Aniridia
|
Congenital Aniridia
|
|
AN1
|
An
|
|
Cataract With Late-Onset Corneal Dystrophy
|
Aplasia Of Iris
|
|
Absent Iris
|
Irideremia
|
|
Aniridia Ii, Formerly
|
An2, Formerly
|
|
An2
|
Aniridia Type Ii
|
|
Aniridia, Type 1
|
An-1
|
|
Absence Of Iris
|
Agenesis Of Iris
|
|
Congenital Absence Of Iris
|
Hereditary Aniridia
|
|
Sporadic Aniridia
|
|
|
| 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
|
|
|
| Hereditary Spastic Paraplegia |
|
Familial Spastic Paraplegia
|
Hereditary Spastic Paraparesis
|
|
Strumpell-Lorrain Disease
|
Familial Spastic Paraparesis
|
|
Hsp
|
Spg
|
|
Strümpell-Lorrain Disease
|
Spastic Paraplegia, Hereditary
|
|
French Settlement Disease
|
Strumpell-Lorrain Syndrome
|
|
Fsp
|
Spastic Paraplegia, Familial
|
|
Spastic Paraplegia Hereditary
|
Spastic Paraplegia 3, Autosomal Dominant
|
|
Spastic Paraparesis
|
Hereditary Spastic Paralysis
|
|
Familial Spastic Paralysis
|
Hereditary Spastic Ataxia
|
|
|
| Autosomal Dominant Polycystic Kidney Disease |
|
Polycystic Kidney Disease, Adult Type
|
Adpkd
|
|
Polycystic Kidney Diseases
|
Polycystic Kidney, Autosomal Dominant
|
|
Congenital Biliary Ectasias
|
Polycystic Kidney And Hepatic Disease 1
|
|
Polycystic Kidney Disease, Autosomal Dominant
|
Kidney, Polycystic, Disease, Autosomal Dominant
|
|
Adult Polycystic Kidney Disease
|
Polycystic Kidney, Adult Type
|
|
Apckd - [Autosomal Polycystic Kidney Disease]
|
|
|
| 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
|
|
|
| Nervous System Disease |
|
Abnormality Of The Nervous System
|
Nervous System Diseases
|
|
Nervous System Disorder
|
|
|
