GJB1 - gap junction protein beta 1 Gene

CMTX1

Cmtx

Charcot-Marie-Tooth Disease X-Linked Dominant 1

Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1

X-Linked Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked

Cmt1x

X-Linked Charcot-Marie-Tooth Disease Type 1

X-Linked Hereditary Motor And Sensory Neuropathy

Hereditary Motor And Sensory Neuropathy, X-Linked

Hmsn, X-Linked

Charcot-Marie-Tooth Neuropathy, X-Linked, 1

Cmt2, Formerly

Charcot-Marie-Tooth Neuropathy X-Linked Dominant 1

Charcot-Marie-Tooth Neuropathy X-Linked 1

Charcot-Marie-Tooth Peroneal Muscular Atrophy X-Linked

Hereditary Motor And Sensory Neuropathy X-Linked

Hmsn X-Linked

Charcot-Marie-Tooth, X-Linked

Charcot-Marie-Tooth Disease, X-Linked Dominant, Type 1

Charcot-Marie-Tooth Disease, X-Linked, 1

Peripheral Neuropathy

Peripheral Nerve Disease

Peripheral Nerve Disorders

Neuropathy, Peripheral

Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

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

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

X-Linked Progressive Cerebellar Ataxia

SCAX1

Opcax

X-Linked Spinocerebellar Ataxia 1

Olivopontocerebellar Atrophy, X-Linked

Opca, X-Linked

Olivopontocerebellar Atrophy X-Linked

Opca X-Linked

Ataxia, Spinocerebellar, X-Linked Type 1

Tooth Diseases

Teeth Disease

Tooth Disorders

Sensory Neuropathy

Peripheral Sensory Neuropathy

Hereditary Sensory And Autonomic Neuropathies

Peripheral Neuropathy

Peripheral Neuropathies

Pain Disorder

Pain

Microcephaly With Spastic Diplegia

Pain Syndrome

Hereditary Neuropathy

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

CMTX2

Charcot-Marie-Tooth Disease X-Linked Recessive 2

X-Linked Charcot-Marie-Tooth Disease Type 2

Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 2

Charcot-Marie-Tooth Neuropathy X-Linked Recessive 2

Charcot-Marie-Tooth Disease, X-Linked Type 2, Recessive

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

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 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

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

Odd Syndrome

ODDD

Oculodentoosseous Dysplasia

Oculodentodigital Syndrome

Odod

Oculo-Dento-Digital Dysplasia

Oculo-Dento-Digital Syndrome

Oculo-Dento-Osseous Dysplasia

Osseous-Oculo-Dental Dysplasia

Meyer-Schwickerath Syndrome

Oddd Syndrome

Oculo Dento Digital Dysplasia

Odds

Oculodentodigital Dysplasia Syndrome

CMT2I

Charcot-Marie-Tooth Disease, Type 2i

Charcot-Marie-Tooth Disease Type 2i

Charcot-Marie-Tooth Neuropathy Type 2i

Charcot-Marie-Tooth Neuropathy, Type 2i

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2i

Charcot-Marie-Tooth Disease 2i

Charcot-Marie-Tooth Disease Axonal Type 2i

Charcot-Marie-Tooth Disease Neuronal Type 2i

Pmld1

Hypomyelinating Leukodystrophy 2

HLD2

Pelizaeus-Merzbacher-Like Disease 1

Pelizaeus-Merzbacher-Like Disease Due To Gjc2 Mutation

Pelizaeus-Merzbacher-Like Disease Type 1

Pelizaeus-Merzbacher-Like Disease, 1

Pelizaeus Merzbacher Like Disease

Pelizaeus-Merzbacher-Like Disease

Pmld - Pelizaeus Merzbacher Like Disease

Pelizaeus-Merzbacher-Like Disease Autosomal Recessive Type 1

Pmldar1

Leukodystrophy, Hypomyelinating, Type 2

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

Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type A

Cmtdia

Charcot-Marie-Tooth Neuropathy Dominant Intermediate A

Di-Cmta

Charcot-Marie-Tooth Disease, Dominant Intermediate, Type A

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

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

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 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

Polyneuropathies

SPG44

Hereditary Spastic Paraplegia 44

Autosomal Recessive Spastic Paraplegia 44

Autosomal Recessive Spastic Paraplegia Type 44

Paraplegia, Spastic, Type 44, Autosomal Recessive

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

Charcot-Marie-Tooth Neuropathy, Type 1d

Charcot-Marie-Tooth Disease 1d

Charcot-Marie-Tooth Disease Demyelinating Type 1d

Hereditary Motor And Sensory Neuropathy Id

Charcot-Marie-Tooth Disease, Type Id

Knuckle Pads, Leukonychia, And Sensorineural Deafness

BAPS

Knuckle Pads, Leuconychia And Sensorineural Deafness

Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome

Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Keratoderma Syndrome

Knuckle Pads, Deafness And Leukonychia Syndrome

Knuckle Pads, Deafness, And Leukonychia Syndrome

Knuckle Pads-Leukonychia-Sensorineural Hearing Loss-Palmoplantar Hyperkeratosis Syndrome

Knuckle Pads-Leukonychia-Sensorineural Hearing Loss-Palmoplantar Keratoderma Syndrome

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

Ectodermal Dysplasia 2, Clouston Type

Hidrotic Ectodermal Dysplasia

ECTD2

Clouston'S Hidrotic Ectodermal Dysplasia

Hidrotic Ectodermal Dysplasia Syndrome

Clouston Hidrotic Ectodermal Dysplasia

Clouston'S Syndrome

Ed2

Ectodermal Dysplasia, Hidrotic

Hed2

Ectodermal Dysplasia

Ectodermal Dysplasia, Hidrotic, Autosomal Dominant

Ectodermal Dysplasia, Hidrotic, 2, Formerly

Hed2, Formerly

Autosomal Dominant Hidrotic Ectodermal Dysplasia

Hed

Hidrotic Ectodermal Dysplasia, Autosomal Dominant

Hidrotic Ectodermal Dysplasia 2

Ectodermal Dysplasia 2 Hidrotic

Ectodermal Dysplasia Hidrotic Autosomal Dominant

Dysplasia, Ectodermal, Hidrotic

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

Gamstorp-Wohlfart Syndrome

Autosomal Recessive Axonal Neuropathy With Neuromyotonia

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

Peripheral Demyelinating Neuropathy

Demyelinating Peripheral Neuropathy

Pmp2-Related Charcot-Marie-Tooth Disease Type 1

Pmp2-Related Charcot-Marie-Tooth Neuropathy Type 1

Pmp2-Related Cmt1

Pmp2-Related Hereditary Motor And Sensory Neuropathy Type 1

Cmt1g

Charcot-Marie-Tooth Disease Type 2d

CMT2D

Charcot-Marie-Tooth Disease, Type 2d

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2d

Charcot-Marie-Tooth Disease Neuronal Type 2d

Charcot-Marie-Tooth Neuropathy Type 2d

Charcot-Marie-Tooth Disease, Neuronal, Type 2d

Charcot-Marie-Tooth Neuropathy, Type 2d

Charcot-Marie-Tooth Disease 2d

Charcot-Marie-Tooth Disease Axonal Type 2d

Mutilating Keratoderma

Keratoderma Hereditarium Mutilans

Khm

VOWNKL

Deafness, Congenital, With Keratopachydermia And Constrictions Of Fingers And Toes

Mutilating Keratoderma Of Vohwinkel

Mutilating Keratoderma Plus Deafness

Ppk Mutilans And Deafness

Congenital Deafness With Keratopachydermia And Constrictions Of Fingers And Toes

Congenital Deafness With Keratopachydermia And Constrictions Fo Fingers And Toes

Palmoplantar Keratoderma Mutilans

Palmoplantar Keratoderma Mutilans Vohwinkel

Ppk Mutilans Vohwinkel

Mutilating Keratoderma Plus Hearing Loss

Ppk Mutilans And Hearing Loss

Charcot-Marie-Tooth Disease Axonal Type 2q

CMT2Q

Charcot-Marie-Tooth Neuropathy, Type 2q

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2q

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2q

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2q

Charcot-Marie-Tooth Neuropathy Type 2q

Charcot-Marie-Tooth Disease 2q

Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2q

Charcot-Marie-Tooth Neuropathy Axonal Type 2q

Charcot-Marie-Tooth Disease Axonal Type 2f

CMT2F

Charcot-Marie-Tooth Disease, Neuronal, Type 2f

Charcot-Marie-Tooth Neuropathy, Type 2f

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2f

Charcot-Marie-Tooth Neuropathy Type 2f

Charcot-Marie-Tooth Neuronal Type 2f

Charcot-Marie-Tooth Disease Type 2f

Cmt 2f

Charcot Marie Tooth Disease Type 2f

Charcot-Marie-Tooth Disease 2f

Charcot-Marie-Tooth Disease Neuronal Type 2f

Charcot-Marie-Tooth Disease, Type 2f

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

CTRCT37

Cca5

Cataract, Congenital, Cerulean Type, 5

Cataract 37, Autosomal Dominant

Congenital Cataract Cerulean Type 5

Balo'S Concentric Sclerosis

Balo Disease

Diffuse Cerebral Sclerosis Of Schilder

Tumefactive Multiple Sclerosis

Concentric Demyelination

Balo'S Disease

Baló Concentric Sclerosis

Encephalitis Periaxialis Concentrica

Marburg Variant

Erythrokeratodermia Variabilis

Erythrokeratodermia Variabilis Et Progressiva

Greither Disease

Ekv

Ekvp

PSEK

Erythrokeratodermia Variabilis With Erythema Gyratum Repens

Keratosis Palmoplantaris Transgrediens Et Progrediens

Transgrediens Et Progrediens Palmoplantar Keratoderma

EKVP1

Erythrokeratodermia, Progressive Symmetric

Erythrokeratodermia Figurata, Congenital Familial, In Plaques

Keratoderma Palmoplantaris Transgrediens

Keratosis Extremitatum Hereditaria Progrediens

Erythrokeratodermia Variabilis, Mendes Da Costa Type

Progressive Symmetric Erythrokeratodermia

Erythrokeratodermia Figurata Variabilis

Greither'S Disease

Ekv-P

Erythrokeratodermia Variabilis Of Mendes Da Costa

Progressive Symmetrical Erythrokeratoderma Of Gottron

Progressive Diffuse Ppk

Progressive Diffuse Palmoplantar Keratoderma

Transgrediens Et Progrediens Ppk

Darier-Gottron Disease

Erythrokeratodermia Progressiva Symmetrica

Progressive Symmetric Erythrokeratodermia, Gottron Type

Congenital Familial Erythrokeratodermia Figurata In Plaques

Erythrokeratodermia Progressive Symmetric

Erythrokeratodermia Variabilis Mendes Da Costa Type

Francois Dyscephalic Syndrome

HSS

Hallermann'S Syndrome

Oculomandibulofacial Syndrome

Hallerman - Streiff Syndrome

François Dyscephalic Syndrome

Hallermann Streiff Francois Syndrome

Hallermann Streiff Syndrome

CMTX5

Rosenberg-Chutorian Syndrome

Charcot-Marie-Tooth Disease X-Linked Recessive 5

Optic Atrophy, Polyneuropathy, And Deafness

Charcot-Marie-Tooth Neuropathy X-Linked Recessive 5

Cmt5x

X-Linked Charcot-Marie-Tooth Disease Type 5

Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 5

Optic Atrophy Polyneuropathy Deafness

Optic Atrophy With Polyneuropathy And Deafness

Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 5

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

Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, A

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

HSAN1C

Hsan Ic

Hsn1c

Hsn Ic

Hereditary Sensory And Autonomic Neuropathy Type 1c

Neuropathy, Hereditary Sensory And Autonomic, Type 1c

Neuropathy, Hereditary Sensory, Type Ic

Hereditary Sensory And Autonomic Neuropathy Type Ic

Neuropathy, Hereditary Sensory And Autonomic, 1c

Hereditary Sensory Neuropathy Type Ic

Neuropathy, Hereditary Sensory/Autonomic, Type Ic

Neuropathy, Sensory And Autonomic, Hereditary, Type Ic

CMDR

Autosomal Recessive Craniometaphyseal Dysplasia

Craniometaphyseal Dysplasia, Autosomal Recessive Type

Dysplasia, Craniometaphyseal, Autosomal Recessive

CMTDIC

Charcot-Marie-Tooth Disease Dominant Intermediate C

Di-Cmtc

Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type C

Charcot-Marie-Tooth Neuropathy, Dominant Intermediate C

Charcot-Marie-Tooth Neuropathy Dominant Intermediate C

Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, C

Charcot-Marie-Tooth Disease, Dominant Intermediate, Type C

Palmoplantar Keratoderma-Deafness Syndrome

Palmoplantar Keratoderma With Deafness

Palmoplantar Hyperkeratosis-Deafness Syndrome

Palmoplantar Hyperkeratosis-Hearing Loss Syndrome

Palmoplantar Keratoderma-Hearing Loss Syndrome

Ppk-Deafness Syndrome

Keratoderma Palmoplantar Deafness

Diffuse Palmoplantar Keratoderma With Deafness

Focal Palmoplantar Keratoderma With Sensorineural Deafness

Hereditary Palmoplantar Keratoderma With Deafness

Keratoderma Palmoplantar, With Deafness

Palmoplantar Keratoderma And Sensorineural Deafness

Ppk With Deafness

PPKDFN

Keratoderma Palmoplantar, Deafness

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 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 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

Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia

PPKCA1

Keratoderma-Hypotrichosis-Leukonychia Totalis Syndrome

Autosomal Dominant Palmoplantar Hyperkeratosis And Congenital Alopecia

Palmoplantar Keratoderma And Congenital Alopecia, Stevanovic Type

Ppk-Ca, Stevanovic Type

Ppkca, Stevanovic Type

Palmoplantar Keratoderma With Congenital Alopecia

Ppkca Stevanovic Type

Alopecia Congenita With Hyperkeratosis Of The Palms And Soles

Alopecia Congenita Keratosis Palmoplantaris

Keratoderma, Palmoplantar, With Congenital Alopecia, Type 1

Pcwh Syndrome

PCWH

Neurologic Waardenburg-Shah Syndrome

Waardenburg-Shah Syndrome, Neurologic Variant

Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Hirschsprung Disease-Waardenburg Syndrome

Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease

Ws4 Plus

Peripheral Demyelinating Neuropathy, Central Dysmyelinating Leukodystrophy, Waardenburg Syndrome And Hirschsprung Disease

Waardenburg-Shah Syndrome Neurologic Variant

Cmt4x

Cmtx4

Cowchock Syndrome

X-Linked Charcot-Marie-Tooth Disease Type 4

Axonal Motor Sensory Neuropathy With Deafness And Mental Retardation

Charcot-Marie-Tooth Disease With Deafness And Mental Retardation

Nadmr

Namsd

Brachial Plexopathy

Brachial Plexus Neuropathies

Brachial Plexus Disorder

Bpn - [Brachial Plexus Neuropathy]

Brachial Plexus Disease

Neuropathic Plexus Brachialis

Brachial Plexus Syndrome

Brachial Plexus Irritation

Brachial Plexus Lesion

Brachial Plexus Pressure

Compression Of Brachial Plexus

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular Disorder

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 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 Type 4j

CMT4J

Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4j

Autosomal Recessive Charcot-Marie-Tooth Disease Type 4j

Charcot-Marie-Tooth Disease 4j

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

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

Hypoglossal Schwannoma

Schwannoma Of The Twelfth Cranial Nerve

Hypoglossal Nerve Diseases

Disorder Of 12th Nerve

Disorder Of Hypoglossal [12th] Nerve

Disorder Of Hypoglossal Nerve

Disorder Of Xii Nerve

Disorders Of The Twelfth Cranial Nerve

Disorders Of 12th Cranial Nerve

Mononeuropathies

Waardenburg-Shah Syndrome

Shah-Waardenburg Syndrome

Waardenburg Syndrome Type 4a

WS4A

Ws4

Waardenburg Syndrome Type 4

Waardenburg Syndrome Type Iva

Waardenburg Syndrome With Hirschsprung Disease Type 4a

Hirschsprung Disease With Pigmentary Anomaly

Waardenburg-Hirschsprung Syndrome

Waardenburg Syndrome, Type Iva

Waardenburg Syndrome With Hirschsprung Disease, Type 4a

Waardenburg-Hirschsprung Disease

Waardenburg Syndrome, Type 4

Waardenburg Syndrome 4a

Hld

Leukodystrophy, Hypomyelinating

Mucoviscidosis

CF

Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

Cystic Fibrosis Lung Disease, Modifier Of

Cystic Fibrosis Of Pancreas

Fibrocystic Disease Of Pancreas

Cf - [Cystic Fibrosis]

Cystic Fibrosis Nos

Fibrocystic Disease

Fibrocystic Disease Of The Pancreas

Mucoviscidosis Of Pancreas

Nonproliferative Fibrocystic Disease

Pancreatic Cystic Fibrosis

PMD

HLD1

Pelizaeus-Merzbacher Brain Sclerosis

Leukodystrophy, Hypomyelinating, 1

Diffuse Familial Brain Sclerosis

Pelizaeus Merzbacher Brain Sclerosis

Sudanophilic Leukodystrophy, Paelizeus-Merzbacher Type

Cockayne-Pelizaeus-Merzbacher Disease

Hypomyelinating Leukodystrophy 1

Leukodystrophy, Sudanophilic

Pelizaeus Merzbacher Disease

Hypomyelinating Leukodystrophy, 1

Sudanophilic Leukodystrophy

Pelizaeus-Merzbacher Disease, Connatal Form

Connatal Pmd

Pelizaeus-Merzbacher Disease Type Ii

Severe Pmd

Null Syndrome

Plp1 Null Syndrome

Pelizaeus-Merzbacher Disease, Null Syndrome

Brain Sclerosis Diffuse Familial

Sudanophilic Leukodystrophy Paelizeus-Merzbacher Type

Leukodystrophy Hypomyelinating 1

Diffuse Cerebral Sclerosis Of Schilder

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency

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

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder