疾病名称 |
别名 |
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Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
Peripheral Neuropathy And Optic Atrophy
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Cmt6
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Charcot-Marie-Tooth Disease Type 6
|
Hmsn Vi
|
HMSN6A
|
Hmsn Via
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Hmsn6
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Cmt6a
|
Charcot-Marie-Tooth Disease, Type 6
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Hereditary Motor And Sensory Neuropathy Type 6
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Hereditary Motor And Sensory Neuropathy Type Vi
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Neuropathy, Hereditary Motor And Sensory, Type 6a
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Neuropathy, Hereditary Motor And Sensory, Type Vi
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Charcot-Marie-Tooth Disease, Type 6a
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Hereditary Motor And Sensory Neuropathy Via
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Hmsn 6
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Neuropathy, Hereditary Motor And Sensory, 6a, With Optic Atrophy
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Charcot-Marie-Tooth Disease 6
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Charcot-Marie-Tooth Disease 6a
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Hereditary Motor And Sensory Neuropathy Type Via
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Hereditary Motor And Sensory Neuropathy Vi
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Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a |
Charcot-Marie-Tooth Disease, Axonal, Type 2a2
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Cmt2a2
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CMT2A2A
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Hereditary Motor And Sensory Neuropathy Iia2
|
Hmsn2a2
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Hmsn Iia2
|
Charcot-Marie-Tooth Disease, Neuronal, Type 2a2
|
Charcot-Marie-Tooth Neuropathy, Type 2a2
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Charcot-Marie-Tooth Disease, Axonal, Type 2a2a
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a2
|
Charcot-Marie-Tooth Disease 2a2a
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Charcot-Marie-Tooth Disease Axonal Type 2a2
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Charcot-Marie-Tooth Disease Neuronal Type 2a2
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Charcot-Marie-Tooth Neuropathy Type 2a2
|
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Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b |
CMT2A2B
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Charcot-Marie-Tooth Disease, Axonal, Type 2a2b
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b
|
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Charcot-Marie-Tooth Disease 2a2b
|
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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
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Charcot-Marie-Tooth Disease, Type 2a2b
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Axonal Neuropathy |
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Charcot-Marie-Tooth Disease Type 2a2a |
Charcot-Marie-Tooth Disease, Type 2a2a
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Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2a2
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Charcot-Marie-Tooth Neuronal Type 2a2
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Charcot-Marie-Tooth Neuropathy Type 2a2
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Cmt2a2a
|
Hereditary Motor And Sensory Neuropathy Iia2
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Hmsn Iia2
|
Hmsn2a2
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Lipomatosis, Multiple Symmetric |
Multiple Symmetric Lipomatosis
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Lipomatosis, Familial Benign Cervical
|
Lipomatosis, Multiple Symmetrical
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Lipodystrophy, Cephalothoracic
|
Benign Symmetrical Lipomatosis
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Madelung Disease
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Madelung'S Disease
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MSL
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Cervical Symmetrical Lipomatosis
|
Launois-Bensaude'S Lipomatosis
|
Madelung'S Neck
|
Multiple Symmetrical Lipomatosis
|
Familial Symmetric Lipomatosis
|
Launois-Bensaude Syndrome
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Cephalothoracic Lipodystrophy
|
Familial Benign Cervical Lipomatosis
|
Launois-Bensaude Lipomatosis
|
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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
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Charcot-Marie-Tooth Disease With Pyramidal Features, Autosomal Dominant
|
Charcot-Marie-Tooth Neuropathy With Pyramidal Features, Autosomal Dominant
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Hereditary Motor And Sensory Neuropathy 5
|
Charcot-Marie-Tooth Disease-Pyramidal Features Syndrome
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Hereditary Motor And Sensory Neuropathy Type V
|
Spastic Paraplegia, Hereditary
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Peripheral Nervous System Disease |
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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Hyperpigmentation Of The Skin |
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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
|
|
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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
|
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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
|
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Microcephaly |
Microencephaly
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Microcephalus
|
Microcephalic
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Nanocephaly
|
Congenital Microcephaly
|
Brain Hypoplasia
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Brain Nondevelopment
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Cephalic Hypoplasia
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Undeveloped Cerebrum
|
Undeveloped Brain
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Micrencephalon
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Micrencephaly
|
|
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Tooth Disease |
Tooth Diseases
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Teeth Disease
|
Tooth Disorders
|
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Genetic Motor Neuron Disease |
Genetic Anterior Horn Cell Disease
|
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Neuropathy |
Peripheral Neuropathy
|
Peripheral Neuropathies
|
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Autosomal Dominant Optic Atrophy Plus Syndrome |
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
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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
|
|
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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
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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
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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
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Autosomal Recessive Opa3
|
Autosomal Recessive Optic Atrophy 3
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3-Methylglutaconic Aciduria 3
|
3-Alpha-Methylglutaconic Aciduria Type 3
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Optic Atrophy 3 Autosomal Recessive
|
Atrophy, Optic
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Atrophy, Optic, Plus Syndrome
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Optic Nerve Atrophy
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Primary Optic Atrophy
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Oa - [Optic Atrophy]
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Second Cranial Nerve Atrophy
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Second Cranium Nerve Atrophy
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Sensory Peripheral Neuropathy |
Sensory Neuropathy
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Peripheral Sensory Neuropathy
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Hereditary Sensory And Autonomic Neuropathies
|
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Cerebral Palsy |
Infantile Cerebral Palsy
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Mixed Cerebral Palsy
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Palsy Cerebral
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Palsy, Cerebral
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Cerebral Palsy, Mixed
|
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Lipomatosis |
Benign Symmetrical Lipomatosis
|
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Motor Peripheral Neuropathy |
Motor Neuritis
|
Peripheral Motor Neuropathy
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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
|
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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
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Charcot Marie Tooth Disease Type 1e
|
Charcot-Marie-Tooth Disease-Deafness Syndrome
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Charcot-Marie-Tooth Disease-Hearing Loss Syndrome
|
Charcot-Marie-Tooth Disease 1e
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Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant
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Charcot-Marie-Tooth Neuropathy Type 1e
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Charcot-Marie-Tooth Disease, Type Ie
|
Hereditary Motor And Sensory Neuropathy Type I
|
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Aceruloplasminemia |
Cerebellar Ataxia
|
Hypoceruloplasminemia
|
Hemosiderosis, Systemic, Due To Aceruloplasminemia
|
Familial Apoceruloplasmin Deficiency
|
Hereditary Ceruloplasmin Deficiency
|
Deficiency Of Ferroxidase
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Hypoceruloplasminemia, Hereditary
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Ceruloplasmin Deficiency
|
Systemic Hemosiderosis Due To Aceruloplasminemia
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ACERULOP
|
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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
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Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy
|
Autosomal Recessive Congenital Hypomyelinating Neuropathy
|
Congenital Amyelinating Neuropathy
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Congenital Hypomyelinating Neuropathy Autosomal Recessive
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Neuropathy, Congenital Hypomyelinating Or Amyelinating
|
Severe Congenital Hypomyelination
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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
|
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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
|
|
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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
|
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Cranial Nerve Disease |
Cranial Nerve Disorder
|
Disorder Of Cranial Nerve
|
Cranial Nerve Diseases
|
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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
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Charcot-Marie-Tooth Disease Axonal Autosomal Dominant 2c
|
Charcot-Marie-Tooth Disease, Type 2c
|
|
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Charcot-Marie-Tooth Disease, Dominant Intermediate D |
CMTDID
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Charcot-Marie-Tooth Disease Dominant Intermediate D
|
Di-Cmtd
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Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type D
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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
|
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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
|
|
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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
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Hmsn1
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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
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Hereditary Motor And Sensory Neuropathy Type I
|
Charcot-Marie-Tooth Disease
|
|
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Neuropathy, Hereditary, With Liability To Pressure Palsies |
Tomaculous Neuropathy
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Hereditary Neuropathy With Liability To Pressure Palsies
|
HNPP
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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
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Hereditary Liability To Pressure Palsies
|
Nerve Compression Syndrome
|
Entrapment Neuropathies
|
Hereditary Motor And Sensory Neuropathies
|
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Hereditary Neuropathies |
|
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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
|
Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, A
|
|
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Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
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
|
|
|
Charcot-Marie-Tooth Disease, Axonal, Type 2f |
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
|
|
|
Neuronopathy, Distal Hereditary Motor, Type Va |
Dsmav
|
Distal Hereditary Motor Neuropathy Type V
|
Young Adult-Onset Distal Hereditary Motor Neuropathy
|
Neuronopathy, Distal Hereditary Motor, Type V
|
Distal Hereditary Motor Neuronopathy Type 5
|
Dhmn5
|
Distal Spinal Muscular Atrophy Type 5
|
HMN5A
|
Hmn5
|
Dhmn5a
|
Dhmn Va
|
Dsmava
|
Spinal Muscular Atrophy, Distal, With Upper Limb Predominance
|
Distal Hmn V
|
Autosomal Recessive Distal Spinal Muscular Atrophy Type 5
|
Dsma5
|
Young Adult-Onset Dhmn
|
Dhmn-V
|
Hmn V
|
Neuronopathy, Distal Hereditary Motor, Type 5a
|
Hmn 5a
|
Neuropathy, Distal Hereditary Motor, Type Va
|
Spinal Muscular Atrophy, Distal, Type Va
|
Spinal Muscular Atrophy, Distal, Type V
|
Distal Spinal Muscular Atrophy Type V
|
Distal Spinal Muscular Atrophy With Upper Limb Predominance
|
Distal Hereditary Motor Neuronopathy Type 5a
|
Distal Hmn Va
|
Distal Spinal Muscular Atrophy Type Va
|
Distal Hereditary Motor Neuropathy, Type V
|
Distal Hereditary Motor Neuronopathy, Type V
|
Distal Spinal Muscular Atrophy, Type V
|
Spinal Muscular Atrophy, Distal Type V
|
Distal Hereditary Motor Neuropathy Type 5
|
Neuronopathy, Distal Hereditary Motor, 5a
|
Dhmn V
|
Distal Hereditary Motor Neuronopathy Type Va
|
Distal Hereditary Motor Neuropathy Type Va
|
Dsma-V
|
Hmn Va
|
Spinal Muscular Atrophy Distal Type V
|
Spinal Muscular Atrophy Distal Type Va
|
Spinal Muscular Atrophy Distal With Upper Limb Predominance
|
Neuropathy, Distal Hereditary Motor, Type V
|
Neuropathy, Motor, Distal, Hereditary, Type Va
|
|
|
Optic Atrophy 11 |
OPA11
|
Atrophy, Optic, Type 11
|
|
|
Charcot-Marie-Tooth Disease, Axonal, Type 2i |
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
|
|
|
Charcot-Marie-Tooth Disease Type X |
|
|
Charcot-Marie-Tooth Disease, Axonal, Type 2b2 |
Charcot-Marie-Tooth Disease Type 2b2
|
CMT2B2
|
Arcmt2b
|
Charcot-Marie-Tooth Disease, Type 2b2
|
Ar-Cmt2b2
|
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b2
|
Autosomal Recessive Axonal Cmt4c3
|
Charcot-Marie-Tooth Disease Neuronal Type 2b2
|
Charcot-Marie-Tooth Neuropathy Type 2b2
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b2
|
Charcot-Marie-Tooth Disease, Neuronal, Type 2b2
|
Charcot-Marie-Tooth Neuropathy, Type 2b2
|
Charcot-Marie-Tooth Disease 2b2
|
Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B2
|
Charcot-Marie-Tooth Disease Axonal Type 2b2
|
|
|
Charcot-Marie-Tooth Disease, Axonal, Type 2l |
Charcot-Marie-Tooth Disease Axonal Type 2l
|
CMT2L
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2l
|
Charcot-Marie-Tooth Neuropathy, Axonal, Type 2l
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2l
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2l
|
Charcot-Marie-Tooth Neuropathy Axonal Type 2l
|
Charcot-Marie-Tooth Disease 2l
|
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2l
|
Charcot-Marie-Tooth Disease Neuronal Type 2l
|
Charcot-Marie-Tooth Neuropathy Type 2l
|
Charcot-Marie-Tooth Disease, Type 2l
|
Charcot-Marie-Tooth Disease, Type 2i
|
|
|
Optic Atrophy 3, Autosomal Dominant |
Optic Atrophy 3
|
OPA3
|
Autosomal Dominant Optic Atrophy And Cataract
|
Optic Atrophy And Cataract, Autosomal Dominant
|
Autosomal Dominant Optic Atrophy Type 3
|
Optic Atrophy 3 With Cataract
|
Opa3, Autosomal Dominant
|
Adoac
|
Optic Atrophy, Cataract, And Neurologic Disorder
|
Autosomal Dominant Optic Atrophy 3
|
Optic Atrophy Type 3
|
Optic Atrophy 3 Autosomal Dominant
|
Atrophy, Optic, Type 3, Autosomal Dominant
|
3-Methylglutaconic Aciduria Type 3
|
|
|
Charcot-Marie-Tooth Disease, Axonal, Type 2d |
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
|
|
|
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
|
|
|
Gonadal Dysgenesis |
Gonadal Dysgenesis Syndrome
|
Turner Syndrome
|
|
|
Charcot-Marie-Tooth Disease, Axonal, Type 2n |
Charcot-Marie-Tooth Disease Axonal Type 2n
|
CMT2N
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2n
|
Charcot-Marie-Tooth Neuropathy Axonal Type 2n
|
Charcot-Marie-Tooth Neuropathy, Axonal, Type 2n
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2n
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2n
|
Charcot-Marie-Tooth Disease 2n
|
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2n
|
Charcot-Marie-Tooth Disease, Type 2n
|
|
|
Optic Nerve Disease |
Optic Neuropathy
|
Disorder Of The Second Nerve
|
Optic Nerve Disorder
|
Optic Nerve
|
Abnormality Of The Optic Nerve
|
Optic Nerve Disorders
|
Neuropathy, Optic
|
Disorder Of The Optic Nerve
|
|
|
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
|
|
|
Pelvic Organ Prolapse |
Rectal Prolapse
|
Pelvic Organ Prolapse, Susceptibility To, 1
|
Pelvic Organ Prolapse, Susceptibility To
|
Prolapse Of Vagina And Rectum
|
Vaginal Prolapse
|
Pelvic Organ Prolapse 1
|
Procidentia, Rectum
|
Prolapse Of Rectal Mucosa
|
Procidentia Of Rectum
|
Rectal Mucosa Prolapse
|
Rectum Prolapse
|
Procidentia Rectum
|
Rp - [Rectal Prolapse]
|
Male Proctocele
|
Male Rectocele
|
Proctoptosis
|
Female Genital Prolapse
|
Female Prolapse
|
Incompetence Of Pelvic Fundus
|
Relaxation Of Perineum
|
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
|
Cpeo With Myopathy
|
Total Ophthalmoplegia
|
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
|
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
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Diabetes Mellitus |
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Hereditary Sensory And Autonomic Neuropathy Type 1 |
Hereditary Sensory And Autonomic Neuropathy Type I
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Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome
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Hsan1e
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Hsan1
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Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy
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Hsn1e
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Hsnie
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Hereditary Sensory Neuropathy Type Ie
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Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome
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Hereditary Sensory And Autonomic Neuropathy Type Ie
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Hereditary Sensory And Autonomic Neuropathy Type 1e
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Hereditary Sensory Neuropathy With Hearing Loss And Dementia
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Dnmt1-Complex Disorder
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Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss
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Hsn Ie
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Hereditary Sensory Autonomic Neuropathy, Type 1
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Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]
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Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
Melas Syndrome
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MELAS
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Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes
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Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode
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Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes
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Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke
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Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes
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Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
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Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes
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Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome
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Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
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Leigh Syndrome |
Leigh Disease
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Infantile Subacute Necrotizing Encephalopathy
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Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency
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LS
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Sne
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Leigh'S Disease
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Leigh Syndrome Due To Mitochondrial Complex I Deficiency
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Necrotizing Encephalopathy, Infantile Subacute, Of Leigh
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Subacute Necrotizing Encephalomyelopathy
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Necrotizing Encephalopathy Infantile Subacute Of Leigh
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Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency
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Infantile Necrotizing Encephalomyelopathy
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Juvenile Subacute Necrotizing Encephalomyelopathy
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Leigh'S Necrotizing Encephalopathy
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Subacute Necrotizing Encephalopathy
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Juvenile Subacute Necrotizing Encephalopathy
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Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency
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Leigh Syndrome Due To Mitochondrial Complex V Deficiency
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Encephalopathy, Subacute Necrotizing, Infantile
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Encephalopathy, Subacute Necrotizing, Juvenile
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Maternally Inherited Leigh Syndrome
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Subacute Necrotising Encephalomyelopathy
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Subacute Necrotising Encephalopathy
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Dilated Cardiomyopathy |
Familial Dilated Cardiomyopathy
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Primary Dilated Cardiomyopathy
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Idiopathic Dilated Cardiomyopathy
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Congestive Cardiomyopathy
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Idiopathic Dilation Cardiomyopathy
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Primary Familial Dilated Cardiomyopathy
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Cardiomyopathy, Dilated
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DCM
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Cardiomyopathy, Familial Dilated
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Dilated Cardiomyopathy, Familial
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Hypokinetic Dilated Cardiomyopathy, Familial
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Familial Idiopathic Cardiomyopathy
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Fdc
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Cardiomyopathy, Familial Idiopathic
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Idiopathic Cardiomegaly
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Dilated Congestive Cardiomyopathy
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Chronic Dilated Cardiomyopathy
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Ccm - [Congestive Cardiomyopathy]
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Cocm - [Congestive Cardiomyopathy]
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Dcm - [Dilated Cardiomyopathy]
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Dilated-Hypokinetic Cardiomyopathy
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Congestive Idiopathic Cardiomyopathy
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Primary Idiopathic Dilated Cardiomyopathy
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Amyotrophic Lateral Sclerosis 1 |
Amyotrophic Lateral Sclerosis
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ALS
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Lou Gehrig Disease
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Amyotrophic Lateral Sclerosis Type 1
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Charcot Disease
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ALS1
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Amyotrophic Lateral Sclerosis, Susceptibility To
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Fals
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Lou Gehrig'S Disease
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Mnd
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Motor Neuron Disease
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Familial Amyotrophic Lateral Sclerosis
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Amyotrophic Lateral Sclerosis 1, Familial
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Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
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Motor Neuron Disease, Bulbar
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Motor Neurone Disease
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Amyotrophic Lateral Sclerosis With Dementia
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Dementia With Amyotrophic Lateral Sclerosis
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Motor Neuron Disease, Amyotrophic Lateral Sclerosis
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Sclerosis, Lateral, Amyotrophic
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Sclerosis, Lateral, Amyotrophic, Type 1
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Amyotrophic Sclerosis
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Als - [Amyotrophic Lateral Sclerosis]
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Wasting Palsy
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Amyotrophic Paralysis
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Amyotrophy Lateral Sclerosis
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Wasting Paralysis
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Spinal Progressive Amyotrophy
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Progressive Atrophic Paralysis
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Nervous System Disease |
Abnormality Of The Nervous System
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Nervous System Diseases
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Nervous System Disorder
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Retinitis Pigmentosa |
RP
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Rod-Cone Dystrophy
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Autosomal Recessive Retinitis Pigmentosa
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Non-Syndromic Retinitis Pigmentosa
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Pericentral Pigmentary Retinopathy
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Pigmentary Retinopathy
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Tapetoretinal Degeneration
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Rcd
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Retinitis Pigmentosa Autosomal Recessive
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ARRP
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Retinitis Pigmentosa, Autosomal Recessive
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Retinitis Pigmentosa 1
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