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01
311070
CMTX5
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
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Disease
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Chemicals
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Biological Phenomena
:
Anatomy
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Organisms
Disease
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MeSH term
Japanese
Link
01
Deafness
聾
Optic Nerve Diseases
視神経疾患
Vision Disorders
視覚障害
Peripheral Nervous System Diseases
末梢神経系疾患
Genetic Diseases, X-Linked
遺伝性疾患-X連鎖性
Optic Atrophy
視神経萎縮
Muscular Atrophy
筋萎縮症
Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth病
Hearing Loss, Sensorineural
難聴-内耳性
Nervous System Diseases
神経系疾患
Syndrome
症候群
Genetic Predisposition to Disease
遺伝的素因(疾患)
Chemicals
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MeSH term
Japanese
Link
01
Ribose-Phosphate Pyrophosphokinase
ホスホリボシルピロリン酸シンテターゼ
Nucleotides
ヌクレオチド
Biological Phenomena
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MeSH term
Japanese
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01
Chromosomes, Human, X
ヒトX染色体
Reflex
反射
Neural Conduction
神経興奮伝導
Mutation, Missense
ミスセンス変異
Age of Onset
発病年齢
Genetic Predisposition to Disease
遺伝的素因(疾患)
Amino Acid Sequence
アミノ酸配列
Genotype
遺伝子型
Phenotype
表現型
Anatomy
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MeSH term
Japanese
Link
01
Chromosomes, Human, X
ヒトX染色体
Motor Neurons
運動ニューロン
Organisms
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MeSH term
Japanese
Link
01
Humans
ヒト
Database Center for Life Science