| 疾病名称 |
别名 |
|
| Charcot-Marie-Tooth Disease, Type 4b1 |
|
Charcot-Marie-Tooth Disease Type 4b1
|
CMT4B1
|
|
Cmt4b
|
Charcot-Marie-Tooth Neuropathy Type 4b1
|
|
Charcot-Marie-Tooth Disease Type 4b
|
Charcot-Marie-Tooth Disease, Autosomal Recessive, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b1
|
|
Charcot-Marie-Tooth Neuropathy, Type 4b1
|
Charcot-Marie-Tooth Disease, Type 4b
|
|
Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b1
|
Charcot-Marie-Tooth Disease 4b1
|
|
Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b1
|
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b1
|
|
|
| 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 |
|
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
|
|
|
| Neuropathy |
|
Peripheral Neuropathy
|
Peripheral Neuropathies
|
|
|
| Tooth Disease |
|
Tooth Diseases
|
Teeth Disease
|
|
Tooth Disorders
|
|
|
| Centronuclear Myopathy |
|
Myopathy, Centronuclear
|
Myotubular Myopathy
|
|
Cnm
|
Myopathy, Myotubular
|
|
Congenital Structural Myopathy
|
|
|
| Sensory Peripheral Neuropathy |
|
Sensory Neuropathy
|
Peripheral Sensory Neuropathy
|
|
Hereditary Sensory And Autonomic Neuropathies
|
|
|
| Hereditary 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
|
|
|
| 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
|
|
|
| Myopathy, Centronuclear, X-Linked |
|
X-Linked Myotubular Myopathy
|
Xlmtm
|
|
X-Linked Centronuclear Myopathy
|
Xlcnm
|
|
CNMX
|
Mtm1
|
|
Myotubular Myopathy, X-Linked
|
Mtmx
|
|
Myotubular Myopathy 1
|
Centronuclear Myopathy X-Linked
|
|
Myotubular Myopathy
|
Mtm
|
|
Cnm
|
Xmtm
|
|
Myotubular Myopathy Type 1
|
|
|
| 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
|
|
|
| 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
|
|
|
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4f |
|
Charcot-Marie-Tooth Disease Type 4f
|
CMT4F
|
|
Charcot-Marie-Tooth Disease, Type 4f
|
Charcot-Marie-Tooth Disease 4f
|
|
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4f
|
Charcot-Marie-Tooth Neuropathy Type 4f
|
|
Dejerine-Sottas Disease
|
|
|
| Charcot-Marie-Tooth Disease, Type 4c |
|
Charcot-Marie-Tooth Disease Type 4c
|
CMT4C
|
|
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
|
|
Charcot-Marie-Tooth Disease 4c
|
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4c
|
|
|
| Charcot-Marie-Tooth Disease, Type 4h |
|
Charcot-Marie-Tooth Disease Type 4h
|
CMT4H
|
|
Charcot-Marie-Tooth Neuropathy Type 4h
|
Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4h
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4h
|
Charcot-Marie-Tooth Neuropathy, Type 4h
|
|
Autosomal Recessive Charcot-Marie-Tooth Disease Type 4h
|
Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4h
|
|
Charcot-Marie-Tooth Disease 4h
|
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4h
|
|
|
| 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
|
|
|
| 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, Type 4b3 |
|
Charcot-Marie-Tooth Disease Type 4b3
|
CMT4B3
|
|
Charcot-Marie-Tooth Disease With Focally Folded Myelin
|
Charcot-Marie-Tooth Disease 4b3
|
|
Charcot-Marie-Tooth Neuropathy Type 4b3
|
|
|
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1c |
|
Charcot-Marie-Tooth Disease Type 1c
|
CMT1C
|
|
Hmsn1c
|
Hmsn Ic
|
|
Charcot-Marie-Tooth Disease, Type 1c
|
Charcot-Marie-Tooth Neuropathy Type 1c
|
|
Cmt, Slow Nerve Conduction Type C
|
Charcot-Marie-Tooth Neuropathy, Type 1c
|
|
Neuropathy, Hereditary Motor And Sensory, Type Ic
|
Cmt Slow Nerve Conduction Type C
|
|
Neuropathy Hereditary Motor And Sensory Type 1c
|
Charcot-Marie-Tooth Disease 1c
|
|
Charcot-Marie-Tooth Disease Demyelinating Type 1c
|
Hereditary Motor And Sensory Neuropathy Ic
|
|
Charcot-Marie-Tooth Disease, Type Ic
|
|
|
| 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
|
|
|
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Dejerine-Sottas Disease
|
Dejerine-Sottas Syndrome
|
|
Charcot-Marie-Tooth Disease Type 3
|
DSS
|
|
Hereditary Motor And Sensory Neuropathy Type Iii
|
Hmsn3
|
|
Dejerine-Sottas Neuropathy
|
Hmsn Iii
|
|
Charcot-Marie-Tooth Disease, Type 3
|
Cmt3
|
|
Dsn
|
Hmsn 3
|
|
Hereditary Motor And Sensory Neuropathy Type 3
|
Hereditary Motor And Sensory Neuropathy 3
|
|
Hypertrophic Neuropathy Of Infancy
|
Charcot-Marie-Tooth Disease Demyelinating Type 4f
|
|
Charcot-Marie-Tooth Disease Type 4f
|
Charcot-Marie-Tooth Neuropathy Type 4f
|
|
Cmt4f
|
Hereditary Motor And Sensory Neuropathy Iii
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Type 4f
|
|
|
| Yunis-Varon Syndrome |
|
Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia
|
Yunis Varon Syndrome
|
|
YVS
|
Cleidocranial Dysplasia-Micrognathia-Absent Thumbs Syndrome
|
|
Cleidocranial Dysplasia, Micrognathia, Absent Thumbs, & Distal Aphalangia
|
Yunis-Varón Syndrome
|
|
|
| Charcot-Marie-Tooth Disease, Type 4d |
|
Charcot-Marie-Tooth Disease Type 4d
|
CMT4D
|
|
Hmsnl
|
Hmsn4d
|
|
Charcot-Marie-Tooth Neuropathy Type 4d
|
Hereditary Motor And Sensory Neuropathy Lom Type
|
|
Hmsn-Lom
|
Neuropathy, Hereditary Motor And Sensory, Lom Type
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4d
|
Charcot-Marie-Tooth Neuropathy, Type 4d
|
|
Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4d
|
Hmsn Lom Type
|
|
Hmsn, Lom Type
|
Hereditary Motor And Sensory Neuropathy, Lom Type
|
|
Charcot-Marie-Tooth Disease 4d
|
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4d
|
|
Hereditary Motor And Sensory Neuropathy Ivd
|
Hmsn Ivd
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2j |
|
CMT2J
|
Charcot-Marie-Tooth Disease, Type 2j
|
|
Charcot-Marie-Tooth Disease Type 2j
|
Charcot-Marie-Tooth Disease Type 2 With Hearing Loss And Pupillary Abnormalities
|
|
Charcot-Marie-Tooth Neuropathy Type 2j
|
Charcot-Marie-Tooth Neuropathy, Type 2j
|
|
Charcot-Marie-Tooth Disease, Type 2, With Hearing Loss And Pupillary Abnormalities
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2j
|
|
Charcot-Marie-Tooth Disease 2j
|
Charcot-Marie-Tooth Disease Axonal Type 2j
|
|
Charcot-Marie-Tooth Disease Neuronal Type 2j
|
|
|
| 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
|
|
|
| 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, 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, Demyelinating, Type 1f |
|
Charcot-Marie-Tooth Disease Type 1f
|
CMT1F
|
|
Charcot-Marie-Tooth Disease, Type 1f
|
Charcot-Marie-Tooth Neuropathy Type 1f
|
|
Charcot-Marie-Tooth Neuropathy, Type 1f
|
Charcot-Marie-Tooth Disease Type 2b5
|
|
Ar-Cmt2b5
|
Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b5
|
|
Seoan Due To Nefl Deficiency
|
Severe Early-Onset Axonal Neuropathy Due To Nefl Deficiency
|
|
Severe Early-Onset Axonal Neuropathy Due To Light Neurofilament Subunit Deficiency
|
Charcot-Marie-Tooth Disease 1f
|
|
Charcot-Marie-Tooth Disease Demyelinating Type 1f
|
Charcot-Marie-Tooth Disease, Type If
|
|
|
| Intraocular Pressure Quantitative Trait Locus |
|
Glaucoma
|
IOPQTL
|
|
Glaucoma, Susceptibility To
|
Postinfectious Glaucoma
|
|
Glaucoma With Ocular Inflammation
|
Glaucoma Secondary To Eye Inflammation
|
|
Traumatic Glaucoma
|
Glaucoma With Concussion Of Globe
|
|
Glaucoma Due To Ocular Trauma
|
Glaucoma Associated With Ocular Trauma
|
|
Glaucoma Secondary To Drugs
|
|
|
| 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
|
|
|
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1d |
|
Charcot-Marie-Tooth Disease Type 1d
|
CMT1D
|
|
Hmsn Id
|
Hmsn1d
|
|
Charcot-Marie-Tooth Disease, Type 1d
|
Hereditary Motor And Sensory Neuropathy 1d
|
|
Charcot-Marie-Tooth Neuropathy Type 1d
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Charcot-Marie-Tooth Neuropathy, Type 1d
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Charcot-Marie-Tooth Disease 1d
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Charcot-Marie-Tooth Disease Demyelinating Type 1d
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Hereditary Motor And Sensory Neuropathy Id
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Charcot-Marie-Tooth Disease, Type Id
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| Charcot-Marie-Tooth Disease Type 2a2b |
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Severe Early-Onset Axonal Neuropathy Due To Mfn2 Deficiency
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Ar-Cmt2, Ouvrier Type
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Autosomal Recessive Charcot-Marie-Tooth Disease, Ouvrier Type
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Seoan Due To Mfn2 Deficiency
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Charcot-Marie-Tooth Disease, Axonal, Type 2a2b
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Cmt2a2b
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Charcot-Marie-Tooth Disease, Type 2a2b
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| Neuropathy, Hereditary Motor And Sensory, Russe Type |
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Charcot-Marie-Tooth Disease Type 4g
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HMSNR
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Cmt4g
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Hereditary Motor And Sensory Neuropathy, Russe Type
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Charcot-Marie-Tooth Disease, Type 4g
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Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4g
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Charcot-Marie-Tooth Neuropathy Type 4g
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Charcot-Marie-Tooth Neuropathy, Type 4g
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Autosomal Recessive Charcot-Marie-Tooth Disease Type 4g
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Hereditary Motor And Sensory Neuropathy Russe Type
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Charcot-Marie-Tooth Disease Autosomal Recessive Type 4g
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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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| Hereditary Motor And Sensory Neuropathy, Type Iic |
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CMT2C
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Charcot-Marie-Tooth Disease Axonal Type 2c
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HMSN2C
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Hmsn Iic
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2c
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Charcot-Marie-Tooth Neuropathy Type 2c
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Hereditary Motor And Sensory Neuropathy Type Iic
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Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2c
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Charcot-Marie-Tooth Neuropathy, Type 2c
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Autosomal Cominant Axonal Charcot-Marie-Tooth Disease Type 2c
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Charcot-Marie-Tooth Disease 2c
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Charcot-Marie-Tooth Disease Axonal Autosomal Dominant 2c
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Charcot-Marie-Tooth Disease, Type 2c
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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 Type X |
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| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
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Smard1
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DSMA1
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Sianrf
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Dhmn6
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Spinal Muscular Atrophy With Respiratory Distress 1
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HMN6
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Severe Infantile Axonal Neuropathy With Respiratory Failure
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Autosomal Recessive Distal Spinal Muscular Atrophy 1
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Diaphragmatic Spinal Muscular Atrophy
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Spinal Muscular Atrophy With Respiratory Distress Type 1
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Neuronopathy, Distal Hereditary Motor, Type Vi
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Hmn Vi
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Neuronopathy, Severe Infantile Axonal, With Respiratory Failure
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Distal Spinal Muscular Atrophy 1
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Autosomal Recessive Spinal Muscular Atrophy With Respiratory Distress
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Distal Hereditary Motor Neuropathy Type 6
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Distal-Hmn Type 6
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Severe Infantile Axonal Neuropathy With Respiratory Failure Type 1
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Spinal Muscular Atrophy, Diaphragmatic
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Distal Hereditary Motor Neuronopathy Type Vi
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Distal Spinal Muscular Atrophy Type 1
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Hmnvi
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Spinal Muscular Atrophy With Respiratory Distress
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Autosomal Recessive Distal Spinal Muscular Atrophy Type 1
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Neuronopathy, Distal Hereditary Motor, 6
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Dhmn Vi
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Distal Hereditary Motor Neuropathy Type Vi
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Severe Infantile Axonal Neuronopathy With Respiratory Failure
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Spinal Muscular Atrophy Distal Autosomal Recessive 1
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Atrophy, Muscular, Spinal, Distal, Type 1
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| Cowden Syndrome 1 |
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Bannayan-Riley-Ruvalcaba Syndrome
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Pten Hamartoma Tumor Syndrome
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Lhermitte-Duclos Disease
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Bannayan-Zonana Syndrome
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Phts
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Riley-Smith Syndrome
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Bzs
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Ruvalcaba-Myhre-Smith Syndrome
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Multiple Hamartoma Syndrome
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Rmss
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Brrs
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Dysplastic Gangliocytoma Of The Cerebellum
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CWS1
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Cs
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Cd
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Mham
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Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
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Macrocephaly Multiple Lipomas And Hemangiomata
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Bannayan-Ruvalcaba-Riley Syndrome
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Myhre-Riley-Smith Syndrome
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LDD
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Cerebelloparenchymal Disorder Vi
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Hamartoma Syndrome, Multiple
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Bbrs
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Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata
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Macrocephaly, Multiple Lipomas, And Hemangiomata
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Macrocephaly Pseudopapilledema And Multiple Hemangiomas
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Ruvalcaba -Myhre-Smith Syndrome
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Ruvalcaba-Myhre Syndrome
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Cowden Disease
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Macrocephaly Pseudopapilledema And Multiple Hemangiomata
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Cerebellar Granule Cell Hypertrophy And Megalencephaly
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Cpd6
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Pten Hamartoma Tumor Syndromes
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Cowden Syndrome, Type 1
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| Neuromuscular Disease |
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Neuromuscular Diseases
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Neuromuscular Disorders
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Neuromuscular Disorder
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| Corneal Dystrophy, Fleck |
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Fleck Corneal Dystrophy
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Fcd
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CFD
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Corneal Fleck Dystrophy
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Francois-Neetens Speckled Corneal Dystrophy
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Corneal Dystrophy, Francois-Neetens Speckled Or Flecked
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Corneal Dystrophy Francois-Neetens Speckled Or Flecked
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Dystrophy, Corneal, Fleck
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| Myopathy |
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Muscular Diseases
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Myopathies
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| Joubert Syndrome 1 |
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Joubert Syndrome
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Jbts
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Cerebellooculorenal Syndrome 1
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JBTS1
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Joubert-Boltshauser Syndrome
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Cerebelloparenchymal Disorder Iv
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Cpd4
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Cors1
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Joubert Syndrome And Related Disorders
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Jsrd
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Familial Aplasia Of The Vermis
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Joubert Syndrome Related Disorders
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Js
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Cerebellar Vermis Agenesis
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Cerebelloparenchymal Disorder 4
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Agenesis Of Cerebellar Vermis
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Cerebello-Oculo-Renal Syndrome
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Cors
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Joubert-Bolthauser Syndrome
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Cpd Iv
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Classic Joubert Syndrome
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Joubert Syndrome Type A
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Pure Joubert Syndrome
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Cerebello-Oculo-Renal Syndrome 1
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Joubert Syndrome-1
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Joubert Syndrome, Type 1
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Joubert'S Syndrome
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| Peripheral Nervous System Disease |
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Peripheral Neuropathy
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Peripheral Nerve Disease
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Peripheral Nerve Disorders
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Neuropathy, Peripheral
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Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
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