| 疾病名称 |
别名 |
|
| 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
|
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a1
|
Charcot-Marie-Tooth Disease 2a1
|
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Charcot-Marie-Tooth Disease Axonal Type 2a1
|
|
|
| Neuroblastoma 1 |
|
Neuroblastoma, Susceptibility To, 1
|
NBLST1
|
|
Neuroblastoma, Susceptibility To, Type 1
|
|
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| Pheochromocytoma |
|
Pheochromocytoma, Susceptibility To
|
Phaeochromocytoma
|
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Adrenal Gland Chromaffin Paraganglioma
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Adrenal Gland Chromaffinoma
|
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Adrenal Gland Paraganglioma
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Adrenal Gland Pheochromocytoma
|
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Chromaffin Paraganglioma Of The Adrenal Gland
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Intraadrenal Paraganglioma
|
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PCC
|
Chromaffin Cell Tumor
|
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Medullary Chromaffinoma
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Medullary Paraganglioma
|
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Pheochromoblastoma
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Pheochromocytomas
|
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Chromaffin Cell Neoplasm
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Pheochromocytoma, Malignant
|
|
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| Hereditary Paraganglioma-Pheochromocytoma Syndromes |
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Hereditary Pheochromocytoma-Paraganglioma
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Hereditary Paraganglioma-Pheochromocytoma
|
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Familial Pheochromocytoma-Paraganglioma
|
Paragangliomas 2
|
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Paragangliomas 3
|
Paragangliomas 4
|
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Sdhx-Related Paraganglioma-Pheochromocytoma
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Familial Paraganglioma Syndrome
|
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Familial Paraganglioma-Pheochromocytoma Syndromes
|
Fpgl
|
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Fpgl/Pheo
|
Paragangliomas 1
|
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Paraganglioma
|
|
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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
|
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Charcot-Marie-Tooth Hereditary Neuropathy
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Charcot-Marie-Tooth Syndrome
|
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Peroneal Muscular Atrophy
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Hereditary Motor And Sensory Neuropathies
|
|
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| Neuroblastoma |
|
Nb
|
Neuroblastoma, Susceptibility To
|
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Neuroblastomas
|
Central Neuroblastoma
|
|
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| Tooth Disease |
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Tooth Diseases
|
Teeth Disease
|
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Tooth Disorders
|
|
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| Neuropathy |
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Peripheral Neuropathy
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Peripheral Neuropathies
|
|
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| Charcot-Marie-Tooth Disease Type 2a2b |
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Severe Early-Onset Axonal Neuropathy Due To Mfn2 Deficiency
|
Ar-Cmt2, Ouvrier Type
|
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Autosomal Recessive Charcot-Marie-Tooth Disease, Ouvrier Type
|
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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| Paraganglioma |
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Chemodectoma
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Glomus Body Tumor
|
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Paragangliomas
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Carotid Body Paraganglioma
|
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Extra-Adrenal Paraganglioma
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2e |
|
Charcot-Marie-Tooth Disease Type 2
|
CMT2E
|
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CMT2S
|
CMT2Y
|
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Charcot-Marie-Tooth Disease Type 2e
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Charcot-Marie-Tooth Disease Type 2y
|
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Charcot-Marie-Tooth Disease Axonal Type 2s
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Charcot-Marie-Tooth Disease, Axonal, Type 2s
|
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Charcot-Marie-Tooth Disease, Type 2e
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Hereditary Motor And Sensory Neuropathy Type 2
|
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Charcot-Marie-Tooth Neuropathy, Type 2s
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Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s
|
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Charcot-Marie-Tooth Disease, Axonal, Type 2y
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y
|
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Charcot-Marie-Tooth Neuropathy, Type 2y
|
Charcot-Marie-Tooth Disease, Type 2y
|
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e
|
Charcot-Marie-Tooth Neuropathy Type 2e
|
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation
|
Cmt2 Due To Vcp Mutation
|
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Charcot-Marie-Tooth Disease Type 2s
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2
|
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Autosomal Dominant Axonal Charcot-Marie-Tooth Disease
|
Cmt2
|
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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
|
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Charcot-Marie-Tooth Neuropathy Type 2y
|
Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s
|
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Charcot-Marie-Tooth Neuropathy Type 2s
|
Charcot-Marie-Tooth Type 2
|
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y
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Charcot-Marie-Tooth Disease 2e
|
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Charcot-Marie-Tooth Disease Axonal Type 2e
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Charcot-Marie-Tooth Disease Neuronal Type 2e
|
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Charcot-Marie-Tooth Disease 2s
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Charcot-Marie-Tooth Neuropathy Axonal Type 2s
|
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Charcot-Marie-Tooth Disease 2y
|
Charcot-Marie-Tooth Disease, Type 2
|
|
Hereditary Motor And Sensory-Neuropathy Type Ii
|
|
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| Esophagus Leiomyoma |
|
|
| Persistent Generalized Lymphadenopathy |
|
Pgl
|
Persistant Generalized Lymphadenopathy
|
|
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| Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
CMTDID
|
Charcot-Marie-Tooth Disease Dominant Intermediate D
|
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Di-Cmtd
|
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
|
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Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, D
|
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type D
|
|
|
| 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
|
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Charcot-Marie-Tooth Neuropathy Type 4e
|
Neuropathy, Congenital Hypomyelinating, 1
|
|
Ar-Cmt1
|
Autosomal Recessive Demyelinating Charcot-Marie-Tooth
|
|
Cmt4
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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
|
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Autosomal Recessive Congenital Hypomyelinating Neuropathy
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Congenital Amyelinating Neuropathy
|
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Congenital Hypomyelinating Neuropathy Autosomal Recessive
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Neuropathy, Congenital Hypomyelinating Or Amyelinating
|
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Severe Congenital Hypomyelination
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Hereditary Sensory Motor Neuropathy
|
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Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive
|
Neuropathy, Hypomyelinating, Congenital, Type 1
|
|
Neuropathy, Motor And Sensory, Hereditary
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Congenital Hypomyelinating Neuropathy
|
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Hereditary Motor And Sensory Neuropathies
|
Hereditary Sensorimotor Neuropathy
|
|
Hmsn - [Hereditary Motor And Sensory Neuropathy]
|
Hsmn - [Hereditary Sensory And Motor Neuropathy]
|
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Hereditary Motor And Sensory Neuropathy, Types I-Iv
|
|
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| Head And Neck Cancer |
|
Head And Neck Neoplasm
|
Head And Neck Tumours
|
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Head/Neck Neoplasm
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Tumor Of Head And Neck
|
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Head And Neck Neoplasms
|
Hnc
|
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Cancer, Head/Neck
|
|
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| Charcot-Marie-Tooth Disease Type 2a2a |
|
Charcot-Marie-Tooth Disease, Type 2a2a
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2a2
|
|
Charcot-Marie-Tooth Neuronal Type 2a2
|
Charcot-Marie-Tooth Neuropathy Type 2a2
|
|
Cmt2a2a
|
Hereditary Motor And Sensory Neuropathy Iia2
|
|
Hmsn Iia2
|
Hmsn2a2
|
|
|
| Paraganglioma And Gastric Stromal Sarcoma |
|
Carney-Stratakis Syndrome
|
Paraganglioma And Gastrointestinal Stromal Tumor
|
|
Carney Dyad
|
Carney-Stratakis Dyad Of Paraganglioma And Gastric Stromal Sarcoma
|
|
Paraganglioma And Gist
|
Carney-Stratakis Dyad
|
|
Gist-Paraganglioma Dyad
|
PGGSS
|
|
Paraganglioma, Gastric Stromal Sarcoma
|
Gastrointestinal Stromal Tumors
|
|
|
| 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
|
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Charcot-Marie-Tooth Disease, Type 2i
|
|
|
| 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
|
|
|
| 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, 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 And Deafness |
|
Charcot-Marie-Tooth Disease Type 1e
|
CMT1E
|
|
Charcot-Marie-Tooth Disease Type 1
|
Hereditary Motor And Sensory Neuropathy Type 1
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e
|
Charcot-Marie-Tooth Disease, Type I
|
|
Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant
|
Charcot-Marie-Tooth Disease, Type 1e
|
|
Charcot-Marie-Tooth Disease Demyelinating Type 1e
|
Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease
|
|
Cmt1
|
Charcot-Marie-Tooth Neuropathy Type 1
|
|
Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness
|
Charcot-Marie-Tooth Disease-Deafness
|
|
Charcot-Marie-Tooth Type 1
|
Hmsn1
|
|
Hereditary Motor And Sensory Neuropathy 1
|
Cmt 1e
|
|
Charcot Marie Tooth Disease Type 1e
|
Charcot-Marie-Tooth Disease-Deafness Syndrome
|
|
Charcot-Marie-Tooth Disease-Hearing Loss Syndrome
|
Charcot-Marie-Tooth Disease 1e
|
|
Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant
|
Charcot-Marie-Tooth Neuropathy Type 1e
|
|
Charcot-Marie-Tooth Disease, Type Ie
|
Hereditary Motor And Sensory Neuropathy Type I
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 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 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
|
|
|
| Peripheral Nervous System Benign Neoplasm |
|
|
| Autonomic Nervous System Benign Neoplasm |
|
|
| Congenital Fibrosis Of The Extraocular Muscles |
|
Congenital Fibrosis Of Extraocular Muscles
|
Cfeom
|
|
Feom
|
Congenital External Ophthalmoplegia
|
|
Congenital Fibrosis Syndrome
|
General Fibrosis Syndrome
|
|
|
| Goldberg-Shprintzen Syndrome |
|
Goldberg-Shprintzen Megacolon Syndrome
|
GOSHS
|
|
Megacolon-Microcephaly Syndrome
|
|
|
| Von Hippel-Lindau Syndrome |
|
Von Hippel-Lindau Disease
|
Vhl
|
|
Vhl Syndrome
|
VHLS
|
|
Von Hippel-Lindau Syndrome, Modifier Of
|
Hippel Lindau Syndrome
|
|
Angiomatosis Retinae
|
Cerebelloretinal Angiomatosis, Familial
|
|
Hippel-Lindau Disease
|
Familial Cerebelloretinal Angiomatosis
|
|
Lindau Disease
|
VHLD
|
|
|
| Spastic Paraplegia 10, Autosomal Dominant |
|
SPG10
|
Hereditary Spastic Paraplegia 10
|
|
Autosomal Dominant Spastic Paraplegia Type 10
|
Spastic Paraplegia 10
|
|
Spastic Paraplegia 10 With Or Without Peripheral Neuropathy
|
Autosomal Dominant Spastic Paraplegia 10
|
|
Autosomal Dominant Spastic Paraplegia
|
Spastic Paraplegia, Autosomal Dominant
|
|
Paraplegia, Spastic, Autosomal Dominant, Type 10
|
|
|
| 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
|
|
|
| Congenital Central Hypoventilation Syndrome |
|
Cchs
|
Haddad Syndrome
|
|
Ondine Curse
|
Ondine Syndrome
|
|
Congenital Central Hypoventilation
|
Congenital Central Alveolar Hypoventilation Syndrome
|
|
Congenital Failure Of Autonomic Control
|
Ondine'S Curse
|
|
Primary Alveolar Hypoventilation
|
Ondine-Hirschsprung Disease
|
|
Central Congenital Hypoventilation Syndrome
|
Congenital Ondine Curse
|
|
Idiopathic Congenital Central Alveolar Hypoventilation
|
Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome
|
|
Ondine-Hirschsprung Syndrome
|
|
|
| Neuromuscular Disease |
|
Neuromuscular Diseases
|
Neuromuscular Disorders
|
|
Neuromuscular Disorder
|
|
|
| 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
|
|
|
| Peripheral Nervous System Disease |
|
Peripheral Neuropathy
|
Peripheral Nerve Disease
|
|
Peripheral Nerve Disorders
|
Neuropathy, Peripheral
|
|
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
|
|
|
