| Diseases |
Alias |
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2b |
|
Charcot-Marie-Tooth Disease Type 2b
|
CMT2B
|
|
Hmsn Iib
|
Hmsn2b
|
|
Charcot-Marie-Tooth Disease, Type 2b
|
Hereditary Motor And Sensory Neuropathy Iib
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2b
|
Charcot-Marie-Tooth Neuropathy Type 2b
|
|
Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2b
|
Charcot-Marie-Tooth Neuropathy, Type 2b
|
|
Hereditary Motor And Sensory Nueropathy Iib
|
Cmt 2b
|
|
Charcot Marie Tooth Disease Type 2b
|
Charcot-Marie-Tooth Disease, Neuronal, Type 2b
|
|
Hereditary Motor And Sensory Neuropathy 2 B
|
Peripheral Sensory Neuropathy, Autosomal Dominant
|
|
Charcot-Marie-Tooth Disease 2b
|
Charcot-Marie-Tooth Disease Axonal Type 2b
|
|
Charcot-Marie-Tooth Disease Neuronal Type 2b
|
Peripheral Sensory Neuropathy Autosomal Dominant
|
|
Psn
|
|
|
| Pontocerebellar Hypoplasia, Type 2e |
|
Pontocerebellar Hypoplasia Type 2
|
Pontocerebellar Hypoplasia Type 2e
|
|
Pch2
|
PCH2E
|
|
Progressive Microcephaly From Birth Extrapyramidal Dyskinesia Chorea Epilepsy
|
Pontocerebellar Hypoplasia 2e
|
|
Pcca2
|
Progressive Cerebello-Cerebral Atrophy Type 2
|
|
Doid:0112328
|
Hypoplasia, Pontocerebellar, Type 2e
|
|
Pontocerebellar Hypoplasia, Type 2d
|
Pontocerebellar Hypoplasia Type 2a
|
|
|
| Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux |
|
Hsan1b
|
Hereditary Sensory Neuropathy Type 1b
|
|
Hsan With Cough And Gastroesophageal Reflux
|
Neuropathy, Hereditary Sensory And Autonomic, Type Ib
|
|
Neuropathy, Hereditary Sensory, Type Ib
|
Hsn1b
|
|
Hereditary Sensory Neuropathy Type Ib
|
Hereditary Sensory And Autonomic Neuropathy Type 1b
|
|
Hereditary Sensory And Autonomic Neuropathy Type 1 With Cough And Gastroesophageal Reflux
|
Hereditary Sensory And Autonomic Neuropathy Type Ib
|
|
Hereditary Sensory Neuropathy, Type Ib
|
|
|
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Ftd3
|
Frontotemporal Dementia, Chromosome 3-Linked
|
|
Amyotrophic Lateral Sclerosis, Chmp2b-Related
|
Chromosome 3-Linked Frontotemporal Dementia
|
|
FTDALS7
|
Chmp2b-Related Frontotemporal Dementia
|
|
Amyotrophic Lateral Sclerosis 17, Formerly
|
Als17, Formerly
|
|
Amyotrophic Lateral Sclerosis Type 17
|
Dtm1
|
|
Ftd-3
|
Ftd-Chmp2b
|
|
Als17
|
Amyotrophic Lateral Sclerosis 17
|
|
Sclerosis, Lateral, Amyotrophic, Type 17
|
Dementia, Frontotemporal, Chromosome 3-Linked
|
|
|
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Charcot-Marie-Tooth Disease Type 4
|
Charcot-Marie-Tooth Disease Type 4e
|
|
Hereditary Motor And Sensory Neuropathy
|
Cmt4e
|
|
CHN1
|
Hypomyelinating Neuropathy, Congenital, 1
|
|
Charcot-Marie-Tooth Neuropathy Type 4e
|
Neuropathy, Congenital Hypomyelinating, 1
|
|
Ar-Cmt1
|
Autosomal Recessive Demyelinating Charcot-Marie-Tooth
|
|
Cmt4
|
Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive
|
|
Hypomyelination, Severe Congenital
|
Charcot-Marie-Tooth Disease, Type 4e
|
|
Charcot-Marie-Tooth Neuropathy, Type 4e
|
Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy
|
|
Autosomal Recessive Congenital Hypomyelinating Neuropathy
|
Congenital Amyelinating Neuropathy
|
|
Congenital Hypomyelinating Neuropathy Autosomal Recessive
|
Neuropathy, Congenital Hypomyelinating Or Amyelinating
|
|
Severe Congenital Hypomyelination
|
Hereditary Sensory Motor Neuropathy
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive
|
Neuropathy, Hypomyelinating, Congenital, Type 1
|
|
Neuropathy, Motor And Sensory, Hereditary
|
Congenital Hypomyelinating Neuropathy
|
|
Hereditary Motor And Sensory Neuropathies
|
Hereditary Sensorimotor Neuropathy
|
|
Hmsn - [Hereditary Motor And Sensory Neuropathy]
|
Hsmn - [Hereditary Sensory And Motor Neuropathy]
|
|
Hereditary Motor And Sensory Neuropathy, Types I-Iv
|
|
|
| Charcot-Marie-Tooth Disease And Deafness |
|
Charcot-Marie-Tooth Disease Type 1e
|
CMT1E
|
|
Charcot-Marie-Tooth Disease Type 1
|
Hereditary Motor And Sensory Neuropathy Type 1
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e
|
Charcot-Marie-Tooth Disease, Type I
|
|
Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant
|
Charcot-Marie-Tooth Disease, Type 1e
|
|
Charcot-Marie-Tooth Disease Demyelinating Type 1e
|
Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease
|
|
Cmt1
|
Charcot-Marie-Tooth Neuropathy Type 1
|
|
Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness
|
Charcot-Marie-Tooth Disease-Deafness
|
|
Charcot-Marie-Tooth Type 1
|
Hmsn1
|
|
Hereditary Motor And Sensory Neuropathy 1
|
Cmt 1e
|
|
Charcot Marie Tooth Disease Type 1e
|
Charcot-Marie-Tooth Disease-Deafness Syndrome
|
|
Charcot-Marie-Tooth Disease-Hearing Loss Syndrome
|
Charcot-Marie-Tooth Disease 1e
|
|
Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant
|
Charcot-Marie-Tooth Neuropathy Type 1e
|
|
Charcot-Marie-Tooth Disease, Type Ie
|
Hereditary Motor And Sensory Neuropathy Type I
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2e |
|
Charcot-Marie-Tooth Disease Type 2
|
CMT2E
|
|
CMT2S
|
CMT2Y
|
|
Charcot-Marie-Tooth Disease Type 2e
|
Charcot-Marie-Tooth Disease Type 2y
|
|
Charcot-Marie-Tooth Disease Axonal Type 2s
|
Charcot-Marie-Tooth Disease, Axonal, Type 2s
|
|
Charcot-Marie-Tooth Disease, Type 2e
|
Hereditary Motor And Sensory Neuropathy Type 2
|
|
Charcot-Marie-Tooth Neuropathy, Type 2s
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s
|
|
Charcot-Marie-Tooth Disease, Axonal, Type 2y
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y
|
|
Charcot-Marie-Tooth Neuropathy, Type 2y
|
Charcot-Marie-Tooth Disease, Type 2y
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e
|
Charcot-Marie-Tooth Neuropathy Type 2e
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation
|
Cmt2 Due To Vcp Mutation
|
|
Charcot-Marie-Tooth Disease Type 2s
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2
|
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease
|
Cmt2
|
|
Charcot-Marie-Tooth Neuropathy, Type 2e
|
Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type
|
|
Hereditary Motor And Sensory Neuropathy Okinawa Type
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y
|
|
Charcot-Marie-Tooth Neuropathy Type 2y
|
Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s
|
|
Charcot-Marie-Tooth Neuropathy Type 2s
|
Charcot-Marie-Tooth Type 2
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y
|
Charcot-Marie-Tooth Disease 2e
|
|
Charcot-Marie-Tooth Disease Axonal Type 2e
|
Charcot-Marie-Tooth Disease Neuronal Type 2e
|
|
Charcot-Marie-Tooth Disease 2s
|
Charcot-Marie-Tooth Neuropathy Axonal Type 2s
|
|
Charcot-Marie-Tooth Disease 2y
|
Charcot-Marie-Tooth Disease, Type 2
|
|
Hereditary Motor And Sensory-Neuropathy Type Ii
|
|
|
| Vici Syndrome |
|
Absent Corpus Callosum Cataract Immunodeficiency
|
VICIS
|
|
Immunodeficiency With Cleft Lip/Palate, Cataract, Hypopigmentation, And Absent Corpus Callosum
|
Dionisi Vici Sabetta Gambarara Syndrome
|
|
Immunodeficiency With Cleft Lip/Palate, Cataract, Hypopigmentation And Absent Corpus Callosum
|
Corpus Callosum Agenesis-Cataract-Immunodeficiency Syndrome
|
|
Dionisi-Vici-Sabetta-Gambarara Syndrome
|
Immunodeficiency With Cleft Lip/Palate Cataract Hypopigmentation And Absent Corpus Callosum
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2l |
|
Charcot-Marie-Tooth Disease Axonal Type 2l
|
CMT2L
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2l
|
Charcot-Marie-Tooth Neuropathy, Axonal, Type 2l
|
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2l
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2l
|
|
Charcot-Marie-Tooth Neuropathy Axonal Type 2l
|
Charcot-Marie-Tooth Disease 2l
|
|
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2l
|
Charcot-Marie-Tooth Disease Neuronal Type 2l
|
|
Charcot-Marie-Tooth Neuropathy Type 2l
|
Charcot-Marie-Tooth Disease, Type 2l
|
|
Charcot-Marie-Tooth Disease, Type 2i
|
|
|
| Charcot-Marie-Tooth Disease, Type 4j |
|
Charcot-Marie-Tooth Disease Type 4j
|
CMT4J
|
|
Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4j
|
Autosomal Recessive Charcot-Marie-Tooth Disease Type 4j
|
|
Charcot-Marie-Tooth Disease 4j
|
|
|
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
CMTDIB
|
Charcot-Marie-Tooth Disease Dominant Intermediate B
|
|
Di-Cmtb
|
Cmtdi1
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2m
|
Charcot-Marie-Tooth Neuropathy Dominant Intermediate B
|
|
CMT2M
|
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B
|
|
Charcot-Marie-Tooth Disease, Axonal Type 2m
|
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B
|
|
Charcot-Marie-Tooth Disease 2m
|
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2m
|
|
Charcot-Marie-Tooth Disease Axonal Type 2m
|
Charcot-Marie-Tooth Neuropathy Axonal Type 2m
|
|
Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, B
|
Charcot-Marie-Tooth Disease, Axonal, Type 2m
|
|
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type B
|
|
|
| Legionnaire Disease |
|
Legionnaires' Disease
|
Legionnaires Disease
|
|
Legionnaire Disease, Susceptibility To
|
Legionella
|
|
Legionella Pneumonia
|
Infection By Legionella Pneumophilia
|
|
Legionnaire'S Disease
|
Legionellosis
|
|
Legionaire Disease, Susceptibility To
|
Legionnaires Pneumonia
|
|
|
| Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Autosomal Recessive Spinocerebellar Ataxia 15
|
SCAR15
|
|
Salih Ataxia
|
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency
|
|
Autosomal Recessive Spinocerebellar Ataxia Type 15
|
Spinocerebellar Ataxia, Autosomal Recessive, 15
|
|
Ataxia, Spinocerebellar, Autosomal Recessive, Type 15
|
|
|
| Neuropathy, Hereditary Sensory, Type Id |
|
HSN1D
|
Hereditary Sensory Neuropathy Type 1d
|
|
Neuropathy, Hereditary Sensory, Type 1d
|
Neuropathy, Hereditary Sensory, 1d
|
|
Hereditary Sensory Neuropathy Type Id
|
Neuropathy, Sensory, Hereditary, Type Id
|
|
|
| Charcot-Marie-Tooth Disease, Type 4b2 |
|
Charcot-Marie-Tooth Disease Type 4b2
|
CMT4B2
|
|
Charcot-Marie-Tooth Disease, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b2
|
Charcot-Marie-Tooth Neuropathy, Type 4b2
|
|
Charcot-Marie-Tooth Neuropathy Type 4b2
|
Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b2
|
|
Cmt 4b2
|
Charcot Marie Tooth Disease Type 4b2
|
|
Charcot-Marie-Tooth Disease 4b2
|
Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b2
|
|
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b2
|
|
|
| Legionellosis |
|
Legionella Infection
|
Pontiac Fever
|
|
Legionnaires' Disease
|
Infection By Legionella Pneumophilia
|
|
Legionella Pneumophila Infection
|
|
|
| Cataract 44 |
|
CTRCT44
|
Total Early-Onset Cataract
|
|
Cataract 44 And Hypotrichosis
|
Cataract And Hypotrichosis
|
|
Cataract, Type 44
|
|
|
| C Syndrome |
|
Opitz Trigonocephaly Syndrome
|
Trigonocephaly
|
|
Trigonocephaly Syndrome
|
Trigonocephaly C Syndrome
|
|
Opitz C Trigonocephaly
|
Opitz Trigonocephaly C Syndrome
|
|
Otcs
|
CSYN
|
|
|
| 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
|
|
|
| Warburg Micro Syndrome 1 |
|
Warburg Micro Syndrome
|
Micro Syndrome
|
|
Warbm
|
WARBM1
|
|
Warburg Sjo Fledelius Syndrome
|
Warburg-Sjo-Fledelius Syndrome
|
|
Micro Syndrome 1
|
Microcephaly, Microcornea, Congenital Cataract, Intellectual Disability, Optic Atrophy And Hypogenitalism
|
|
|
| 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
|
|
|
| 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
|
|
|
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Hereditary Sensory And Autonomic Neuropathy Type I
|
Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome
|
|
Hsan1e
|
Hsan1
|
|
Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy
|
Hsn1e
|
|
Hsnie
|
Hereditary Sensory Neuropathy Type Ie
|
|
Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome
|
Hereditary Sensory And Autonomic Neuropathy Type Ie
|
|
Hereditary Sensory And Autonomic Neuropathy Type 1e
|
Hereditary Sensory Neuropathy With Hearing Loss And Dementia
|
|
Dnmt1-Complex Disorder
|
Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss
|
|
Hsn Ie
|
Hereditary Sensory Autonomic Neuropathy, Type 1
|
|
Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]
|
|
|
| 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
|
|
|
| Neuromuscular Disease |
|
Neuromuscular Diseases
|
Neuromuscular Disorders
|
|
Neuromuscular Disorder
|
|
|
| Hermansky-Pudlak Syndrome |
|
Hps
|
Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
|
|
Hermanski-Pudlak Syndrome
|
Hermansky Pudlak Syndrome
|
|
Platelet Storage Pool Deficiency
|
|
|
| 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
|
|
|
| Charcot-Marie-Tooth Disease |
|
Cmt
|
Hmsn
|
|
Hereditary Motor And Sensory Neuropathy
|
Pma
|
|
Cmt - Charcot-Marie-Tooth Disease
|
Charcot Marie Tooth Disease
|
|
Charcot-Marie-Tooth Hereditary Neuropathy
|
Charcot-Marie-Tooth Syndrome
|
|
Peroneal Muscular Atrophy
|
Hereditary Motor And Sensory Neuropathies
|
|
|
| Peripheral Nervous System Disease |
|
Peripheral Neuropathy
|
Peripheral Nerve Disease
|
|
Peripheral Nerve Disorders
|
Neuropathy, Peripheral
|
|
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
|
|
|
| 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
|
|
|
