| Diseases |
Alias |
|
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Peripheral Neuropathy And Optic Atrophy
|
Cmt6
|
|
Charcot-Marie-Tooth Disease Type 6
|
Hmsn Vi
|
|
HMSN6A
|
Hmsn Via
|
|
Hmsn6
|
Cmt6a
|
|
Charcot-Marie-Tooth Disease, Type 6
|
Hereditary Motor And Sensory Neuropathy Type 6
|
|
Hereditary Motor And Sensory Neuropathy Type Vi
|
Neuropathy, Hereditary Motor And Sensory, Type 6a
|
|
Neuropathy, Hereditary Motor And Sensory, Type Vi
|
Charcot-Marie-Tooth Disease, Type 6a
|
|
Hereditary Motor And Sensory Neuropathy Via
|
Hmsn 6
|
|
Neuropathy, Hereditary Motor And Sensory, 6a, With Optic Atrophy
|
Charcot-Marie-Tooth Disease 6
|
|
Charcot-Marie-Tooth Disease 6a
|
Hereditary Motor And Sensory Neuropathy Type Via
|
|
Hereditary Motor And Sensory Neuropathy Vi
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a |
|
Charcot-Marie-Tooth Disease, Axonal, Type 2a2
|
Cmt2a2
|
|
CMT2A2A
|
Hereditary Motor And Sensory Neuropathy Iia2
|
|
Hmsn2a2
|
Hmsn Iia2
|
|
Charcot-Marie-Tooth Disease, Neuronal, Type 2a2
|
Charcot-Marie-Tooth Neuropathy, Type 2a2
|
|
Charcot-Marie-Tooth Disease, Axonal, Type 2a2a
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a2
|
|
Charcot-Marie-Tooth Disease 2a2a
|
Charcot-Marie-Tooth Disease Axonal Type 2a2
|
|
Charcot-Marie-Tooth Disease Neuronal Type 2a2
|
Charcot-Marie-Tooth Neuropathy Type 2a2
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b |
|
CMT2A2B
|
Charcot-Marie-Tooth Disease, Axonal, Type 2a2b
|
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b
|
|
|
Charcot-Marie-Tooth Disease 2a2b
|
|
|
| Charcot-Marie-Tooth Disease Type 2a2b |
|
Severe Early-Onset Axonal Neuropathy Due To Mfn2 Deficiency
|
Ar-Cmt2, Ouvrier Type
|
|
Autosomal Recessive Charcot-Marie-Tooth Disease, Ouvrier Type
|
Seoan Due To Mfn2 Deficiency
|
|
Charcot-Marie-Tooth Disease, Axonal, Type 2a2b
|
Cmt2a2b
|
|
Charcot-Marie-Tooth Disease, Type 2a2b
|
|
|
| Axonal Neuropathy |
|
|
| Charcot-Marie-Tooth Disease Type 2a2a |
|
Charcot-Marie-Tooth Disease, Type 2a2a
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2a2
|
|
Charcot-Marie-Tooth Neuronal Type 2a2
|
Charcot-Marie-Tooth Neuropathy Type 2a2
|
|
Cmt2a2a
|
Hereditary Motor And Sensory Neuropathy Iia2
|
|
Hmsn Iia2
|
Hmsn2a2
|
|
|
| Lipomatosis, Multiple Symmetric |
|
Multiple Symmetric Lipomatosis
|
Lipomatosis, Familial Benign Cervical
|
|
Lipomatosis, Multiple Symmetrical
|
Lipodystrophy, Cephalothoracic
|
|
Benign Symmetrical Lipomatosis
|
Madelung Disease
|
|
Madelung'S Disease
|
MSL
|
|
Cervical Symmetrical Lipomatosis
|
Launois-Bensaude'S Lipomatosis
|
|
Madelung'S Neck
|
Multiple Symmetrical Lipomatosis
|
|
Familial Symmetric Lipomatosis
|
Launois-Bensaude Syndrome
|
|
Cephalothoracic Lipodystrophy
|
Familial Benign Cervical Lipomatosis
|
|
Launois-Bensaude Lipomatosis
|
|
|
| Hereditary Motor And Sensory Neuropathy V |
|
Hmsn V
|
Peroneal Muscular Atrophy With Pyramidal Features, Autosomal Dominant
|
|
Cmt With Pyramidal Features
|
Hereditary Motor And Sensory Neuropathy Type 5
|
|
Hmsn 5
|
Hmsn5
|
|
Charcot-Marie-Tooth Disease With Pyramidal Features, Autosomal Dominant
|
Charcot-Marie-Tooth Neuropathy With Pyramidal Features, Autosomal Dominant
|
|
Hereditary Motor And Sensory Neuropathy 5
|
Charcot-Marie-Tooth Disease-Pyramidal Features Syndrome
|
|
Hereditary Motor And Sensory Neuropathy Type V
|
Spastic Paraplegia, Hereditary
|
|
|
| Peripheral Nervous System Disease |
|
Peripheral Neuropathy
|
Peripheral Nerve Disease
|
|
Peripheral Nerve Disorders
|
Neuropathy, Peripheral
|
|
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
|
|
|
| Hyperpigmentation Of The Skin |
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Tooth Disease |
|
Tooth Diseases
|
Teeth Disease
|
|
Tooth Disorders
|
|
|
| Genetic Motor Neuron Disease |
|
Genetic Anterior Horn Cell Disease
|
|
|
| Neuropathy |
|
Peripheral Neuropathy
|
Peripheral Neuropathies
|
|
|
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
|
Capos Syndrome
|
|
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
|
Optic Atrophy-Deafness-Polyneuropathy-Myopathy Syndrome
|
|
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy And Sensorinural Hearing
|
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy And Sensorinural Hearing Loss
|
|
Capos
|
Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing Loss
|
|
Dominant Optic Atrophy Plus Syndrome
|
Dominant Optic Atrophy, Deafness, Ptosis, Ophthalmoplegia, Dystaxia, And Myopathy
|
|
Optic Atrophy - Deafness- Polyneuropathy - Myopathy
|
Treft-Sanborn-Carey Syndrome
|
|
Doa+
|
Optic Atrophy-Hearing Loss-Polyneuropathy-Myopathy Syndrome
|
|
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Deafness Syndrome
|
Optic Atrophy Autosomal Dominant
|
|
Treft Sanborn Carey Syndrome
|
|
|
| 3-Methylglutaconic Aciduria, Type Iii |
|
Optic Atrophy
|
3-Methylglutaconic Aciduria Type 3
|
|
Costeff Syndrome
|
Mga3
|
|
Costeff Optic Atrophy Syndrome
|
Optic Atrophy Plus Syndrome
|
|
Infantile Optic Atrophy With Chorea And Spastic Paraplegia
|
3-Methylglutaconic Aciduria Type Iii
|
|
Autosomal Recessive Optic Atrophy Plus Syndrome
|
Autosomal Recessive Optic Atrophy Type 3
|
|
Opa3 Defect
|
MGCA3
|
|
Mga, Type Iii
|
Iraqi Jewish Optic Atrophy Plus
|
|
Mga Type Iii
|
Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia
|
|
Iraqi-Jewish 'Optic Atrophy Plus'
|
Optic Atrophy 3, Autosomal Recessive
|
|
Opa3, Autosomal Recessive
|
Opa3-Related 3-Methylglutaconic Aciduria
|
|
Iraqi-Jewish Optic Atrophy Plus
|
Atrophy Of Optic Disc
|
|
3-Alpha Methylglutaconic Aciduria Type Iii
|
Optic Atrophy 3
|
|
Optic Atrophy Infantile With Chorea And Spastic Paraplegia
|
Autosomal Recessive Opa3
|
|
Autosomal Recessive Optic Atrophy 3
|
3-Methylglutaconic Aciduria 3
|
|
3-Alpha-Methylglutaconic Aciduria Type 3
|
Optic Atrophy 3 Autosomal Recessive
|
|
Atrophy, Optic
|
Atrophy, Optic, Plus Syndrome
|
|
Optic Nerve Atrophy
|
Primary Optic Atrophy
|
|
Oa - [Optic Atrophy]
|
Second Cranial Nerve Atrophy
|
|
Second Cranium Nerve Atrophy
|
|
|
| Sensory Peripheral Neuropathy |
|
Sensory Neuropathy
|
Peripheral Sensory Neuropathy
|
|
Hereditary Sensory And Autonomic Neuropathies
|
|
|
| Cerebral Palsy |
|
Infantile Cerebral Palsy
|
Mixed Cerebral Palsy
|
|
Palsy Cerebral
|
Palsy, Cerebral
|
|
Cerebral Palsy, Mixed
|
|
|
| Lipomatosis |
|
Benign Symmetrical Lipomatosis
|
|
|
| Motor Peripheral Neuropathy |
|
Motor Neuritis
|
Peripheral Motor Neuropathy
|
|
Hereditary Motor And Sensory Neuropathy
|
Hsmn
|
|
Hsmn - Hereditary Sensory And Motor Neuropathy
|
Neuropathic Muscular Atrophy
|
|
Hereditary Sensory And Motor Neuropathy
|
Hereditary Motor And Sensory Neuropathies
|
|
|
| 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
|
|
|
| Aceruloplasminemia |
|
Cerebellar Ataxia
|
Hypoceruloplasminemia
|
|
Hemosiderosis, Systemic, Due To Aceruloplasminemia
|
Familial Apoceruloplasmin Deficiency
|
|
Hereditary Ceruloplasmin Deficiency
|
Deficiency Of Ferroxidase
|
|
Hypoceruloplasminemia, Hereditary
|
Ceruloplasmin Deficiency
|
|
Systemic Hemosiderosis Due To Aceruloplasminemia
|
ACERULOP
|
|
|
| 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, Axonal, Type 2a1 |
|
CMT2A1
|
Charcot-Marie-Tooth Disease Type 2a1
|
|
Hereditary Motor And Sensory Neuropathy Iia1
|
Hmsn Iia1
|
|
Hmsn2a1
|
Charcot-Marie-Tooth Disease, Type 2a1
|
|
Charcot-Marie-Tooth Disease Neuronal Type 2a1
|
Charcot-Marie-Tooth Neuropathy Type 2a1
|
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a1
|
Charcot-Marie-Tooth Disease, Neuronal, Type 2a1
|
|
Charcot-Marie-Tooth Neuropathy, Type 2a1
|
Autosomal Dominant Charcot-Marie-Tooth Disease Axonal Type 2a1
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a1
|
Charcot-Marie-Tooth Disease 2a1
|
|
Charcot-Marie-Tooth Disease Axonal Type 2a1
|
|
|
| Charcot-Marie-Tooth Disease, Type 4a |
|
Charcot-Marie-Tooth Disease Type 4a
|
CMT4A
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4a
|
Charcot-Marie-Tooth Neuropathy, Type 4a
|
|
Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4a
|
Charcot-Marie-Tooth Neuropathy Type 4a
|
|
Charcot-Marie-Tooth Disease 4a
|
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive, Type 4a
|
|
Charcot-Marie-Tooth Disease Neuropathy Type 4a
|
|
|
| Cranial Nerve Disease |
|
Cranial Nerve Disorder
|
Disorder Of Cranial Nerve
|
|
Cranial Nerve Diseases
|
|
|
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
CMT2C
|
Charcot-Marie-Tooth Disease Axonal Type 2c
|
|
HMSN2C
|
Hmsn Iic
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2c
|
Charcot-Marie-Tooth Neuropathy Type 2c
|
|
Hereditary Motor And Sensory Neuropathy Type Iic
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2c
|
|
Charcot-Marie-Tooth Neuropathy, Type 2c
|
Autosomal Cominant Axonal Charcot-Marie-Tooth Disease Type 2c
|
|
Charcot-Marie-Tooth Disease 2c
|
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant 2c
|
|
Charcot-Marie-Tooth Disease, Type 2c
|
|
|
| Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
CMTDID
|
Charcot-Marie-Tooth Disease Dominant Intermediate D
|
|
Di-Cmtd
|
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type D
|
|
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate D
|
Charcot-Marie-Tooth Neuropathy Dominant Intermediate D
|
|
Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, D
|
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type D
|
|
|
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1a |
|
Charcot-Marie-Tooth Disease Type 1a
|
CMT1A
|
|
Charcot-Marie-Tooth Disease, Type Ia
|
Hmsn1a
|
|
Hereditary Motor And Sensory Neuropathy Ia
|
Hmsn Ia
|
|
Charcot-Marie-Tooth Neuropathy, Type 1a
|
Charcot-Marie-Tooth Disease, Type 1a
|
|
Charcot-Marie-Tooth Neuropathy Type 1a
|
Hereditary Motor And Sensory Neuropathy 1a
|
|
Microduplication 17p12
|
Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1a
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 1a
|
Cmt 1a
|
|
Charcot Marie Tooth Disease Type 1a
|
Hmsn 1a
|
|
Charcot-Marie-Tooth Disease 1a
|
Charcot-Marie-Tooth Disease Demyelinating Type 1a
|
|
Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Unlinked To Duffy
|
|
|
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1b |
|
Charcot-Marie-Tooth Disease Type 1b
|
CMT1B
|
|
Hereditary Motor And Sensory Neuropathy Ib
|
Hmsn Ib
|
|
Hmsn1b
|
Peroneal Muscular Atrophy
|
|
Charcot-Marie-Tooth Disease, Type 1b
|
Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Linked To Duffy
|
|
Charcot-Marie-Tooth Neuropathy Type 1b
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
Hereditary Motor And Sensory Neuropathy I
|
Hmsn I
|
|
Hmsn1
|
Charcot-Marie-Tooth Neuropathy, Type 1b
|
|
Charcot-Marie-Tooth Disease, Slow Nerve Conduction Type, Linked To Duffy
|
Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1b
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 1b
|
Charcot-Marie-Tooth Disease 1b
|
|
Charcot-Marie-Tooth Disease Demyelinating Type 1b
|
Hmsn Type I
|
|
Hereditary Motor And Sensory Neuropathy Type I
|
Charcot-Marie-Tooth Disease
|
|
|
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Tomaculous Neuropathy
|
Hereditary Neuropathy With Liability To Pressure Palsies
|
|
HNPP
|
Polyneuropathy, Familial Recurrent
|
|
Neuropathy, Recurrent, With Pressure Palsies
|
Current Pressure-Sensitive Neuropathy
|
|
Familial Recurrent Polyneuropathy
|
Heterozygous Microdeletion 17p11.2p12
|
|
Potato-Grubbing Palsy
|
Tulip-Bulb Digger'S Palsy
|
|
Compression Neuropathy
|
Entrapment Neuropathy
|
|
Familial Pressure Sensitive Neuropathy
|
Hereditary Motor And Sensory Neuropathy
|
|
Hereditary Pressure Sensitive Neuropathy
|
Inherited Tendency To Pressure Palsies
|
|
Hereditary Liability To Pressure Palsies
|
Nerve Compression Syndrome
|
|
Entrapment Neuropathies
|
Hereditary Motor And Sensory Neuropathies
|
|
|
| Hereditary Neuropathies |
|
|
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Charcot-Marie-Tooth Disease Recessive Intermediate A
|
CMTRIA
|
|
Ri-Cmta
|
Charcot-Marie-Tooth Disease, Recessive Intermediate, A
|
|
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type A
|
Charcot-Marie-Tooth Neuropathy Recessive Intermediate A
|
|
Charcot-Marie-Tooth Neuropathy, Recessive Intermediate A
|
Ri-Cmt Type A
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Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, A
|
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| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
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CMTX1
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Cmtx
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Charcot-Marie-Tooth Disease X-Linked Dominant 1
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Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1
|
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X-Linked Charcot-Marie-Tooth Disease
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Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked
|
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Cmt1x
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X-Linked Charcot-Marie-Tooth Disease Type 1
|
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X-Linked Hereditary Motor And Sensory Neuropathy
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Hereditary Motor And Sensory Neuropathy, X-Linked
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Hmsn, X-Linked
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Charcot-Marie-Tooth Neuropathy, X-Linked, 1
|
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Cmt2, Formerly
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Charcot-Marie-Tooth Neuropathy X-Linked Dominant 1
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Charcot-Marie-Tooth Neuropathy X-Linked 1
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Charcot-Marie-Tooth Peroneal Muscular Atrophy X-Linked
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Hereditary Motor And Sensory Neuropathy X-Linked
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Hmsn X-Linked
|
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Charcot-Marie-Tooth, X-Linked
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Charcot-Marie-Tooth Disease, X-Linked Dominant, Type 1
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Charcot-Marie-Tooth Disease, X-Linked, 1
|
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| Charcot-Marie-Tooth Disease, Axonal, Type 2f |
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Charcot-Marie-Tooth Disease Axonal Type 2f
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CMT2F
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Charcot-Marie-Tooth Disease, Neuronal, Type 2f
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Charcot-Marie-Tooth Neuropathy, Type 2f
|
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2f
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Charcot-Marie-Tooth Neuropathy Type 2f
|
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Charcot-Marie-Tooth Neuronal Type 2f
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Charcot-Marie-Tooth Disease Type 2f
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Cmt 2f
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Charcot Marie Tooth Disease Type 2f
|
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Charcot-Marie-Tooth Disease 2f
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Charcot-Marie-Tooth Disease Neuronal Type 2f
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Charcot-Marie-Tooth Disease, Type 2f
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| Neuronopathy, Distal Hereditary Motor, Type Va |
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Dsmav
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Distal Hereditary Motor Neuropathy Type V
|
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Young Adult-Onset Distal Hereditary Motor Neuropathy
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Neuronopathy, Distal Hereditary Motor, Type V
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Distal Hereditary Motor Neuronopathy Type 5
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Dhmn5
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Distal Spinal Muscular Atrophy Type 5
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HMN5A
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Hmn5
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Dhmn5a
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Dhmn Va
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Dsmava
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Spinal Muscular Atrophy, Distal, With Upper Limb Predominance
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Distal Hmn V
|
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Autosomal Recessive Distal Spinal Muscular Atrophy Type 5
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Dsma5
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Young Adult-Onset Dhmn
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Dhmn-V
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Hmn V
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Neuronopathy, Distal Hereditary Motor, Type 5a
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Hmn 5a
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Neuropathy, Distal Hereditary Motor, Type Va
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Spinal Muscular Atrophy, Distal, Type Va
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Spinal Muscular Atrophy, Distal, Type V
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Distal Spinal Muscular Atrophy Type V
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Distal Spinal Muscular Atrophy With Upper Limb Predominance
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Distal Hereditary Motor Neuronopathy Type 5a
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Distal Hmn Va
|
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Distal Spinal Muscular Atrophy Type Va
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Distal Hereditary Motor Neuropathy, Type V
|
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Distal Hereditary Motor Neuronopathy, Type V
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Distal Spinal Muscular Atrophy, Type V
|
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Spinal Muscular Atrophy, Distal Type V
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Distal Hereditary Motor Neuropathy Type 5
|
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Neuronopathy, Distal Hereditary Motor, 5a
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Dhmn V
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Distal Hereditary Motor Neuronopathy Type Va
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Distal Hereditary Motor Neuropathy Type Va
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Dsma-V
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Hmn Va
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Spinal Muscular Atrophy Distal Type V
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Spinal Muscular Atrophy Distal Type Va
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Spinal Muscular Atrophy Distal With Upper Limb Predominance
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Neuropathy, Distal Hereditary Motor, Type V
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Neuropathy, Motor, Distal, Hereditary, Type Va
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| Optic Atrophy 11 |
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OPA11
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Atrophy, Optic, Type 11
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| Charcot-Marie-Tooth Disease, Axonal, Type 2i |
|
CMT2I
|
Charcot-Marie-Tooth Disease, Type 2i
|
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Charcot-Marie-Tooth Disease Type 2i
|
Charcot-Marie-Tooth Neuropathy Type 2i
|
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Charcot-Marie-Tooth Neuropathy, Type 2i
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2i
|
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Charcot-Marie-Tooth Disease 2i
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Charcot-Marie-Tooth Disease Axonal Type 2i
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Charcot-Marie-Tooth Disease Neuronal Type 2i
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| Charcot-Marie-Tooth Disease Type X |
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| Charcot-Marie-Tooth Disease, Axonal, Type 2b2 |
|
Charcot-Marie-Tooth Disease Type 2b2
|
CMT2B2
|
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Arcmt2b
|
Charcot-Marie-Tooth Disease, Type 2b2
|
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Ar-Cmt2b2
|
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b2
|
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Autosomal Recessive Axonal Cmt4c3
|
Charcot-Marie-Tooth Disease Neuronal Type 2b2
|
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Charcot-Marie-Tooth Neuropathy Type 2b2
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b2
|
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Charcot-Marie-Tooth Disease, Neuronal, Type 2b2
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Charcot-Marie-Tooth Neuropathy, Type 2b2
|
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Charcot-Marie-Tooth Disease 2b2
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Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B2
|
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Charcot-Marie-Tooth Disease Axonal Type 2b2
|
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| Charcot-Marie-Tooth Disease, Axonal, Type 2l |
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Charcot-Marie-Tooth Disease Axonal Type 2l
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CMT2L
|
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2l
|
Charcot-Marie-Tooth Neuropathy, Axonal, Type 2l
|
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Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2l
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2l
|
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Charcot-Marie-Tooth Neuropathy Axonal Type 2l
|
Charcot-Marie-Tooth Disease 2l
|
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Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2l
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Charcot-Marie-Tooth Disease Neuronal Type 2l
|
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Charcot-Marie-Tooth Neuropathy Type 2l
|
Charcot-Marie-Tooth Disease, Type 2l
|
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Charcot-Marie-Tooth Disease, Type 2i
|
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| Optic Atrophy 3, Autosomal Dominant |
|
Optic Atrophy 3
|
OPA3
|
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Autosomal Dominant Optic Atrophy And Cataract
|
Optic Atrophy And Cataract, Autosomal Dominant
|
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Autosomal Dominant Optic Atrophy Type 3
|
Optic Atrophy 3 With Cataract
|
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Opa3, Autosomal Dominant
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Adoac
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Optic Atrophy, Cataract, And Neurologic Disorder
|
Autosomal Dominant Optic Atrophy 3
|
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Optic Atrophy Type 3
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Optic Atrophy 3 Autosomal Dominant
|
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Atrophy, Optic, Type 3, Autosomal Dominant
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3-Methylglutaconic Aciduria Type 3
|
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| Charcot-Marie-Tooth Disease, Axonal, Type 2d |
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Charcot-Marie-Tooth Disease Type 2d
|
CMT2D
|
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Charcot-Marie-Tooth Disease, Type 2d
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2d
|
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Charcot-Marie-Tooth Disease Neuronal Type 2d
|
Charcot-Marie-Tooth Neuropathy Type 2d
|
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Charcot-Marie-Tooth Disease, Neuronal, Type 2d
|
Charcot-Marie-Tooth Neuropathy, Type 2d
|
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Charcot-Marie-Tooth Disease 2d
|
Charcot-Marie-Tooth Disease Axonal Type 2d
|
|
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| Charcot-Marie-Tooth Disease, Type 4c |
|
Charcot-Marie-Tooth Disease Type 4c
|
CMT4C
|
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Charcot-Marie-Tooth Neuropathy Type 4c
|
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4c
|
|
Charcot-Marie-Tooth Neuropathy, Type 4c
|
Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4c
|
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Charcot-Marie-Tooth Disease 4c
|
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4c
|
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| Gonadal Dysgenesis |
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Gonadal Dysgenesis Syndrome
|
Turner Syndrome
|
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| Charcot-Marie-Tooth Disease, Axonal, Type 2n |
|
Charcot-Marie-Tooth Disease Axonal Type 2n
|
CMT2N
|
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2n
|
Charcot-Marie-Tooth Neuropathy Axonal Type 2n
|
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Charcot-Marie-Tooth Neuropathy, Axonal, Type 2n
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2n
|
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Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2n
|
Charcot-Marie-Tooth Disease 2n
|
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Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2n
|
Charcot-Marie-Tooth Disease, Type 2n
|
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| Optic Nerve Disease |
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Optic Neuropathy
|
Disorder Of The Second Nerve
|
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Optic Nerve Disorder
|
Optic Nerve
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Abnormality Of The Optic Nerve
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Optic Nerve Disorders
|
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Neuropathy, Optic
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Disorder Of The Optic Nerve
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| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Dejerine-Sottas Disease
|
Dejerine-Sottas Syndrome
|
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Charcot-Marie-Tooth Disease Type 3
|
DSS
|
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Hereditary Motor And Sensory Neuropathy Type Iii
|
Hmsn3
|
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Dejerine-Sottas Neuropathy
|
Hmsn Iii
|
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Charcot-Marie-Tooth Disease, Type 3
|
Cmt3
|
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Dsn
|
Hmsn 3
|
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Hereditary Motor And Sensory Neuropathy Type 3
|
Hereditary Motor And Sensory Neuropathy 3
|
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Hypertrophic Neuropathy Of Infancy
|
Charcot-Marie-Tooth Disease Demyelinating Type 4f
|
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Charcot-Marie-Tooth Disease Type 4f
|
Charcot-Marie-Tooth Neuropathy Type 4f
|
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Cmt4f
|
Hereditary Motor And Sensory Neuropathy Iii
|
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Charcot-Marie-Tooth Disease, Demyelinating, Type 4f
|
|
|
| Pelvic Organ Prolapse |
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Rectal Prolapse
|
Pelvic Organ Prolapse, Susceptibility To, 1
|
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Pelvic Organ Prolapse, Susceptibility To
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Prolapse Of Vagina And Rectum
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Vaginal Prolapse
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Pelvic Organ Prolapse 1
|
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Procidentia, Rectum
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Prolapse Of Rectal Mucosa
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Procidentia Of Rectum
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Rectal Mucosa Prolapse
|
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Rectum Prolapse
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Procidentia Rectum
|
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Rp - [Rectal Prolapse]
|
Male Proctocele
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Male Rectocele
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Proctoptosis
|
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Female Genital Prolapse
|
Female Prolapse
|
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Incompetence Of Pelvic Fundus
|
Relaxation Of Perineum
|
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Deficiency Of Perineum
|
|
|
| Kearns-Sayre Syndrome |
|
Ophthalmoplegia
|
Mitochondrial Cytopathy
|
|
KSS
|
Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy
|
|
Oculocraniosomatic Syndrome
|
Chronic Progressive External Ophthalmoplegia With Myopathy
|
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Cpeo With Myopathy
|
Total Ophthalmoplegia
|
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Ophthalmoplegia-Plus Syndrome
|
Ophthalmoplegia, Progressive External, With Ragged-Red Fibers
|
|
Cpeo With Ragged-Red Fibers
|
Oculomotor Paralysis
|
|
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O
|
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna
|
|
Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia
|
Cpeo With Ragged Red Fibers
|
|
Ophthalmoplegia Plus Syndrome
|
Ophthalmoplegia, Progressive External, With Ragged Red Fibers
|
|
Kearns-Sayre Mitochondrial Cytopathy
|
Mitochondrial Myopathies
|
|
|
| Neuromyotonia And Axonal Neuropathy, Autosomal Recessive |
|
Gamstorp-Wohlfart Syndrome
|
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
|
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NMAN
|
Myokymia, Myotonia, And Muscle Wasting
|
|
Aran-Nm
|
Autosomal Recessive Charcot-Marie-Tooth Disease Type 2 With Neuromyotonia
|
|
Autosomal Recessive Neuromyotonia And Axonal Neuropathy
|
Arcmt2-Nm
|
|
Myokymia, Myotonia And Muscle Wasting
|
Myokymia Myotonia And Muscle Wasting
|
|
Isaacs Syndrome
|
|
|
| Toxic Optic Neuropathy |
|
|
| Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures |
|
OPA10
|
Optic Atrophy 10 With Or Without Ataxia, Intellectual Disability, And Seizures
|
|
Optic Atrophy 10
|
Atrophy, Optic, Type 10, With/Without Ataxia, Mental Retardation, And Seizures
|
|
|
| Behr Syndrome |
|
BEHRS
|
Abortive Cerebellar Ataxia
|
|
Optic Atrophy, Infantile Hereditary, With Neurologic Abnormalities
|
Optic Atrophy, Infantile Hereditary, Behr Complicated Form Of
|
|
Optic Atrophy In Early Childhood, Associated With Ataxia, Spasticity, Mental Retardation, And Posterior Column Sensory Loss
|
Obsolete: Behr Syndrome
|
|
Optic Atrophy In Early Childhood, Associated With Ataxia, Spasticity, Intellectual Disability, And Posterior Column Sensory Loss
|
Infantile Hereditary Optic Atrophy With Neurologic Abnormalities
|
|
|
| Asymmetric Motor Neuropathy |
|
|
| Diffuse Lipomatosis |
|
|
| 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
|
|
|
| Charcot-Marie-Tooth Disease Intermediate Type |
|
Intermediate Charcot-Marie-Tooth Disease
|
Charcot-Marie-Tooth Disease Dominant Intermediate
|
|
Charcot-Marie-Tooth Disease Recessive Intermediate
|
Intermediate Cmt
|
|
Intermediate Hereditary Motor And Sensory Neuropathy
|
Charcot-Marie-Tooth Disease, Intermediate Type
|
|
Charcot-Marie-Tooth, Intermediate
|
|
|
| Friedreich Ataxia |
|
Friedreich Ataxia 1
|
FRDA
|
|
Friedreich Ataxia With Retained Reflexes
|
Frda1
|
|
Fa
|
Friedreich'S Ataxia
|
|
Hereditary Spinal Ataxia
|
Fa1
|
|
Friedreich'S Tabes
|
Hereditary Spinal Sclerosis
|
|
Spinocerebellar Ataxia, Friedreich
|
Friedreich Spinocerebellar Ataxia
|
|
Friedrich'S Ataxia
|
|
|
| Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Hereditary Sensory And Autonomic Neuropathy Type 2
|
Hsan2
|
|
HSAN2A
|
Morvan Disease
|
|
Hereditary Sensory And Autonomic Neuropathy Type Ii
|
Neurogenic Acroosteolysis
|
|
Hsan Iia
|
Hsn2a
|
|
Hsn Iia
|
Neuropathy, Progressive Sensory, Of Children
|
|
Neuropathy, Congenital Sensory
|
Neuropathy, Hereditary Sensory And Autonomic, Type Ii
|
|
Hereditary Sensory And Autonomic Neuropathy Type 2a
|
Hereditary Sensory And Autonomic Neuropathy Type Iia
|
|
Hsanii
|
Congenital Sensory Neuropathy
|
|
Hsan Type Ii
|
Morvan Syndrome
|
|
Neuropathy, Hereditary Sensory And Autonomic, Type 2a
|
Morvan'S Disease
|
|
Neuropathy, Hereditary Sensory, Type Iia
|
Acroosteolysis, Neurogenic
|
|
Acroosteolysis, Giaccai Type
|
Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive
|
|
Hereditary Sensory Autonomic Neuropathy Type 2
|
Giaccai Type Acroosteolysis
|
|
Hereditary Sensory Neuropathy Type 2
|
Hereditary Sensory Radicular Neuropathy, Recessive Form
|
|
Hsan2b
|
Hsan2c
|
|
Hsan2d
|
Hsn Type Ii
|
|
Autosomal Recessive Sensory Radicular Neuropathy
|
Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome
|
|
Morvan Fibrillary Chorea
|
Neuropathy, Hereditary Sensory And Autonomic, 2a
|
|
Acroosteolysis Giaccai Type
|
Hereditary Sensory Neuropathy Type Iia
|
|
Hereditary Sensory Radicular Neuropathy Autosomal Recessive
|
Progressive Sensory Neuropathy Of Children
|
|
Neuropathy Congenital Sensory
|
Charcot-Marie-Tooth Disease
|
|
Neuropathy, Sensory And Autonomic, Hereditary, Type Iia
|
Hereditary Sensory Autonomic Neuropathy, Type 2
|
|
Hereditary Motor And Sensory-Neuropathy Type Ii
|
Sensory Neuropathy, Hereditary
|
|
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
|
|
|
| Neuromuscular Disease |
|
Neuromuscular Diseases
|
Neuromuscular Disorders
|
|
Neuromuscular Disorder
|
|
|
| Pontocerebellar Hypoplasia, Type 1e |
|
Pontocerebellar Hypoplasia Type 1
|
PCH1E
|
|
Norman Disease
|
Pch1
|
|
Pontocerebellar Hypoplasia With Anterior Horn Cell Disease
|
Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy
|
|
Pontocerebellar Hypoplasia Type 1e
|
Pontocerebellar Hypoplasia 1e
|
|
Doid:0112322
|
Doid:0112330
|
|
|
| Leber Hereditary Optic Neuropathy, Modifier Of |
|
Leber Optic Atrophy
|
Leber Hereditary Optic Neuropathy
|
|
LHON
|
Leber'S Hereditary Optic Neuropathy
|
|
Leber Optic Atrophy, Susceptibility To
|
Leber'S Optic Atrophy
|
|
LOAM
|
Loas
|
|
Leber'S Disease
|
Leber'S Optic Neuropathy
|
|
Optic Atrophy, Hereditary, Leber
|
Lhon, Modifier Of
|
|
Optic Atrophy, Leber Type
|
Hereditary Optic Neuroretinopathy
|
|
Leber Hereditary Optic Atrophy
|
Loa
|
|
Optic Atrophy Leber Type
|
Leber Hereditary Optic Neuropathy, Modifier
|
|
Leber Hereditary Optic Neuropathy Susceptibility
|
Modifier Of Leber Hereditary Optic Neuropathy
|
|
Lebers Hereditary Optic Neuropathy
|
Leber Congenital Amaurosis
|
|
|
| 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
|
|
|
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
SANDO
|
Mitochondrial Recessive Ataxia Syndrome
|
|
Spinocerebellar Ataxia With Epilepsy
|
Epilepsy, Progressive Myoclonic 5
|
|
Epm5
|
Miras
|
|
SCAE
|
Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions, Autosomal Recessive
|
|
Autosomal Recessive Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions
|
Progressive Myoclonic Epilepsy Type 5
|
|
Pme Type 5
|
Progressive Myoclonus Epilepsy Type 5
|
|
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
|
Recessive Mitochondrial Ataxia Syndrome
|
|
Sensory Ataxic Neuropathy Dysarthria And Ophthalmoparesis
|
Mitochondrial Spinocerebellar Ataxia-Epilepsy Syndrome
|
|
Mscae
|
Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Autosomal Recessive
|
|
Progressive Myoclonic Epilepsy With Sensory Ataxic Neuropathy
|
Epilepsy, Progressive Myoclonic, 5
|
|
Ataxia Neuropathy Spectrum
|
|
|
| Mitochondrial Dna Depletion Syndrome 7 |
|
Ohaha Syndrome
|
Infantile Onset Spinocerebellar Ataxia
|
|
Iosca
|
Infantile-Onset Spinocerebellar Ataxia
|
|
Spinocerebellar Ataxia 8
|
MTDPS7
|
|
Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, And Athetosis
|
Ophthalmoplegia-Hypotonia-Ataxia-Hypoacusis-Athetosis Syndrome
|
|
Sca8
|
Spinocerebellar Ataxia Infantile With Sensory Neuropathy
|
|
Spinocerebellar Ataxia, Infantile-Onset
|
Ophthalmoplegia, Hypotonia, Ataxia, Hypoacusis, And Athetosis
|
|
Spinocerebellar Ataxia, Infantile, With Sensory Neuropathy
|
Spinocerebellar Ataxia 8, Formerly
|
|
Sca8, Formerly
|
Iosca, Mitochondrial Dna Depletion Syndrome 7
|
|
Ophthalmoplegia - Hypotonia - Ataxia - Hypoacusis - Athetosis
|
Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form
|
|
Mtdna Depletion Syndrome, Hepatocerebrorenal Form
|
Mitochondrial Dna Depletion Syndrome 7 Hepatocerebral Type
|
|
Ophthalmoplegia Hypotonia Ataxia Hypoacusis And Athetosis
|
Pure Spinocerebellar Ataxia Japanese Type
|
|
Sca4 Pure Japanese Type
|
Spinocerebellar Ataxia Infantile-Onset
|
|
Mitochondrial Dna Depletion Syndrome , Type 7
|
|
|
| Mitochondrial Myopathy |
|
Mitochondrial Myopathies
|
Mitochondrial Cytopathy
|
|
Myopathies In Mitochondrial Disorders
|
|
|
| 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
|
|
|
| Mitochondrial Dna Depletion Syndrome |
|
|
| 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
|
|
|
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Merrf Syndrome
|
MERRF
|
|
Fukuhara Syndrome
|
Myoclonic Epilepsy Associated With Ragged Red Fibers
|
|
Myoencephalopathy Ragged-Red Fiber Disease
|
Myoclonic Epilepsy - Ragged Red Fibers
|
|
Myoclonus Epilepsy And Ragged Red Fibers
|
Myoclonus With Epilepsy And With Ragged Red Fibers
|
|
Myoclonic Epilepsy With Ragged Red Fibers
|
Myoclonic Epilepsy With Ragged-Red Fibers
|
|
Fukuhara Disease
|
Myoclonus Epilepsy Associated With Ragged-Red Fibres
|
|
Myoclonus With Epilepsy With Ragged Red Fibers
|
|
|
| Mitochondrial Dna Depletion Syndrome 4a |
|
Alpers Syndrome
|
Alpers-Huttenlocher Syndrome
|
|
Alpers Progressive Infantile Poliodystrophy
|
Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis
|
|
Alpers Disease
|
Progressive Sclerosing Poliodystrophy
|
|
Pndc
|
Diffuse Cerebral Sclerosis Of Schilder
|
|
MTDPS4A
|
Neuronal Degeneration Of Childhood With Liver Disease, Progressive
|
|
Alper'S Syndrome
|
Alpers' Disease Or Gray-Matter Degeneration
|
|
Diffuse Cerebral Degeneration In Infancy
|
Infantile Poliodystrophy
|
|
Poliodystrophia Cerebri Progressiva
|
Progressive Cerebral Poliodystrophy
|
|
Alpers' Disease
|
Alpers Progressive Sclerosing Poliodystrophy
|
|
Progressive Neuronal Degeneration Of Childhood With Liver Disease
|
Ahs
|
|
Mitochondrial Dna Depletion Syndrome 4a Alpers Type
|
Neuronal Degeneration Of Childhood With Liver Disease Progressive
|
|
|
| Mitochondrial Encephalomyopathy |
|
Mitochondrial Encephalomyopathies
|
Encephalomyopathy, Mitochondrial
|
|
|
| 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
|
|
|
| Diabetes Mellitus |
|
|
| 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]
|
|
|
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Melas Syndrome
|
MELAS
|
|
Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes
|
Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode
|
|
Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes
|
Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke
|
|
Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes
|
Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
|
|
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes
|
Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome
|
|
Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
|
|
|
| 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
|
|
|
| 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
|
|
|
| Nervous System Disease |
|
Abnormality Of The Nervous System
|
Nervous System Diseases
|
|
Nervous System Disorder
|
|
|
| Retinitis Pigmentosa |
|
RP
|
Rod-Cone Dystrophy
|
|
Autosomal Recessive Retinitis Pigmentosa
|
Non-Syndromic Retinitis Pigmentosa
|
|
Pericentral Pigmentary Retinopathy
|
Pigmentary Retinopathy
|
|
Tapetoretinal Degeneration
|
Rcd
|
|
Retinitis Pigmentosa Autosomal Recessive
|
ARRP
|
|
Retinitis Pigmentosa, Autosomal Recessive
|
Retinitis Pigmentosa 1
|
|
|
