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01 600882 CMT2B CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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MeSH term Japanese Link 01
Charcot-Marie-Tooth Disease Charcot-Marie-Tooth病 MeSH lifesciencedb.jp
Hereditary Sensory and Autonomic Neuropathies 遺伝性感覚自律性ニューロパシー MeSH lifesciencedb.jp
Foot Ulcer 足部潰瘍 MeSH lifesciencedb.jp
Skin Ulcer 皮膚潰瘍 MeSH lifesciencedb.jp
Gastroesophageal Reflux 胃食道逆流 MeSH lifesciencedb.jp
Cough 咳嗽 MeSH lifesciencedb.jp
Neuromuscular Diseases 神経筋疾患 MeSH lifesciencedb.jp
Nervous System Diseases 神経系疾患 MeSH lifesciencedb.jp
Genetic Predisposition to Disease 遺伝的素因(疾患) MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp



Chemicals

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MeSH term Japanese Link 01
rab GTP-Binding Proteins rab G蛋白質 MeSH lifesciencedb.jp
Asparagine アスパラギン MeSH lifesciencedb.jp
Serine C-Palmitoyltransferase セリンパルミトイル転移酵素 MeSH lifesciencedb.jp
Cytosine シトシン MeSH lifesciencedb.jp
Threonine スレオニン MeSH lifesciencedb.jp
Guanine グアニン MeSH lifesciencedb.jp
Acyltransferases アシルトランスフェラーゼ MeSH lifesciencedb.jp
Lysine リジン MeSH lifesciencedb.jp
Adaptor Proteins, Signal Transducing シグナルトランスダクションアダプター蛋白質 MeSH lifesciencedb.jp
Recombinant Proteins 組換え蛋白質 MeSH lifesciencedb.jp
Nerve Tissue Proteins 神経組織蛋白質 MeSH lifesciencedb.jp
Carrier Proteins 担体蛋白質 MeSH lifesciencedb.jp
Proteins 蛋白質 MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp
DNA デオキシリボ核酸 MeSH lifesciencedb.jp



Biological Phenomena

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MeSH term Japanese Link 01
Chromosomes, Human, Pair 3 ヒト第3染色体 MeSH lifesciencedb.jp
Lod Score ロッドスコア MeSH lifesciencedb.jp
Neural Conduction 神経興奮伝導 MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Recombination, Genetic 遺伝子組換え MeSH lifesciencedb.jp
Haplotypes ハプロタイプ MeSH lifesciencedb.jp
Tandem Repeat Sequences 縦列反復配列 MeSH lifesciencedb.jp
Microsatellite Repeats マイクロサテライトリピート MeSH lifesciencedb.jp
Gene Amplification 遺伝子増幅 MeSH lifesciencedb.jp
Penetrance 浸透度(遺伝学) MeSH lifesciencedb.jp
Trinucleotide Repeat Expansion トリヌクレオチドリピート伸長 MeSH lifesciencedb.jp
Functional Laterality Functional Laterality MeSH lifesciencedb.jp
Chromosomes, Human, Pair 12 ヒト第12染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 19 ヒト第19染色体 MeSH lifesciencedb.jp
Genes, Dominant 優性遺伝子 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 7 ヒト第7染色体 MeSH lifesciencedb.jp
Genetic Heterogeneity 遺伝的異質性 MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Sequence Homology, Amino Acid アミノ酸配列相同性 MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp
Genetic Variation 遺伝的多様性 MeSH lifesciencedb.jp
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Point Mutation 点変異 MeSH lifesciencedb.jp
Age of Onset 発病年齢 MeSH lifesciencedb.jp
Gene Frequency 遺伝子頻度 MeSH lifesciencedb.jp
Immunohistochemistry 免疫組織化学 MeSH lifesciencedb.jp
Heterozygote ヘテロ接合体 MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp
Genetic Predisposition to Disease 遺伝的素因(疾患) MeSH lifesciencedb.jp
Polymorphism, Genetic 遺伝子多型 MeSH lifesciencedb.jp
Follow-Up Studies 追跡研究 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp



Anatomy

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MeSH term Japanese Link 01
Chromosomes, Human, Pair 3 ヒト第3染色体 MeSH lifesciencedb.jp
Sural Nerve 腓腹神経 MeSH lifesciencedb.jp
Toes 足指 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 12 ヒト第12染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 19 ヒト第19染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 7 ヒト第7染色体 MeSH lifesciencedb.jp



Organisms

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MeSH term Japanese Link 01
Animals 動物 MeSH lifesciencedb.jp
Humans ヒト MeSH lifesciencedb.jp



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