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01 605253 - NEUROPATHY, CONGENITAL HYPOMYELINATING - 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
Demyelinating Diseases 脱髄疾患 MeSH lifesciencedb.jp
Hereditary Sensory and Motor Neuropathy 遺伝性運動感覚性ニューロパシー MeSH lifesciencedb.jp
Muscle Hypotonia 筋緊張低下 MeSH lifesciencedb.jp
Spinal Curvatures 脊柱変形 MeSH lifesciencedb.jp
Hereditary Central Nervous System Demyelinating Diseases 遺伝性中枢神経系脱髄疾患 MeSH lifesciencedb.jp
Reflex, Abnormal 異常反射 MeSH lifesciencedb.jp
Failure to Thrive 成長不全 MeSH lifesciencedb.jp
Scoliosis 脊柱側彎症 MeSH lifesciencedb.jp
Peripheral Nervous System Diseases 末梢神経系疾患 MeSH lifesciencedb.jp
Diseases in Twins 双生児の疾患 MeSH lifesciencedb.jp
Genetic Predisposition to Disease 遺伝的素因(疾患) MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp



Chemicals

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MeSH term Japanese Link 01
Myelin P0 Protein ミエリンP0蛋白質 MeSH lifesciencedb.jp
Early Growth Response Protein 2 - MeSH lifesciencedb.jp
Myelin Proteins ミエリン蛋白質 MeSH lifesciencedb.jp
HMGB Proteins 高速移動群ボックス蛋白質 MeSH lifesciencedb.jp
Ether-A-Go-Go Potassium Channels - MeSH lifesciencedb.jp
Lamins 核ラミン MeSH lifesciencedb.jp
Immediate-Early Proteins 前初期蛋白質 MeSH lifesciencedb.jp
Myelin Basic Protein ミエリン塩基性蛋白質 MeSH lifesciencedb.jp
Lamin Type A ラミンA MeSH lifesciencedb.jp
Potassium Channels, Voltage-Gated カリウムチャネル-電位依存性 MeSH lifesciencedb.jp
Nuclear Proteins 核内蛋白質 MeSH lifesciencedb.jp
Leucine ロイシン MeSH lifesciencedb.jp
Transcription Factors 転写因子 MeSH lifesciencedb.jp
Protein Isoforms アイソフォーム MeSH lifesciencedb.jp
DNA-Binding Proteins DNA結合タンパク MeSH lifesciencedb.jp
Codon, Nonsense ナンセンスコドン MeSH lifesciencedb.jp
Arginine アルギニン MeSH lifesciencedb.jp
RNA, Messenger メッセンジャーRNA MeSH lifesciencedb.jp
DNA, Complementary 相補的DNA MeSH lifesciencedb.jp
DNA デオキシリボ核酸 MeSH lifesciencedb.jp
Membrane Proteins 膜蛋白質 MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp



Biological Phenomena

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MeSH term Japanese Link 01
Point Mutation 点変異 MeSH lifesciencedb.jp
Amino Acid Substitution アミノ酸置換 MeSH lifesciencedb.jp
Polymorphism, Single-Stranded Conformational PCR-SSCP法 MeSH lifesciencedb.jp
Frameshift Mutation フレームシフト変異 MeSH lifesciencedb.jp
Cell Differentiation 細胞分化 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Exons エクソン MeSH lifesciencedb.jp
Tandem Repeat Sequences 縦列反復配列 MeSH lifesciencedb.jp
Genes 遺伝子 MeSH lifesciencedb.jp
Reflex, Abnormal 異常反射 MeSH lifesciencedb.jp
Sequence Homology, Amino Acid アミノ酸配列相同性 MeSH lifesciencedb.jp
Genes, Dominant 優性遺伝子 MeSH lifesciencedb.jp
Gene Expression Regulation 遺伝子発現調節 MeSH lifesciencedb.jp
Zinc Fingers 亜鉛フィンガー MeSH lifesciencedb.jp
Follow-Up Studies 追跡研究 MeSH lifesciencedb.jp
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Gene Dosage 遺伝子量 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 10 ヒト第10染色体 MeSH lifesciencedb.jp
Conserved Sequence 保存配列 MeSH lifesciencedb.jp
Organ Specificity 臓器特異性 MeSH lifesciencedb.jp
Cell Proliferation 細胞増殖 MeSH lifesciencedb.jp
Electrophysiology 電気生理学 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 19 ヒト第19染色体 MeSH lifesciencedb.jp
Neural Conduction 神経興奮伝導 MeSH lifesciencedb.jp
Codon, Nonsense ナンセンスコドン MeSH lifesciencedb.jp
Protein Conformation 蛋白質高次構造 MeSH lifesciencedb.jp
Tissue Distribution 組織内分布 MeSH lifesciencedb.jp
Haplotypes ハプロタイプ MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Protein Structure, Tertiary 蛋白質三次構造 MeSH lifesciencedb.jp
Linkage Disequilibrium 連鎖不平衡 MeSH lifesciencedb.jp
Recombination, Genetic 遺伝子組換え MeSH lifesciencedb.jp
Risk Assessment リスク評価 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Genetic Variation 遺伝的多様性 MeSH lifesciencedb.jp
Genetic Testing 遺伝学的スクリーニング MeSH lifesciencedb.jp
Consanguinity 血族 MeSH lifesciencedb.jp
Gene Expression 遺伝子発現 MeSH lifesciencedb.jp
Incidence 発生率 MeSH lifesciencedb.jp
Lod Score ロッドスコア MeSH lifesciencedb.jp
Homozygote ホモ接合体 MeSH lifesciencedb.jp
Cohort Studies コホート研究 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Gene Frequency 遺伝子頻度 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
Risk Factors 危険因子 MeSH lifesciencedb.jp
Alleles 対立遺伝子 MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp



Anatomy

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MeSH term Japanese Link 01
Sural Nerve 腓腹神経 MeSH lifesciencedb.jp
Schwann Cells Schwann細胞 MeSH lifesciencedb.jp
Myelin Sheath 髄鞘 MeSH lifesciencedb.jp
Sciatic Nerve 坐骨神経 MeSH lifesciencedb.jp
Nerve Fibers, Myelinated 有髄神経線維 MeSH lifesciencedb.jp
Peripheral Nerves 末梢神経 MeSH lifesciencedb.jp
Pluripotent Stem Cells 多分化能性幹細胞 MeSH lifesciencedb.jp
Axons 軸索 MeSH lifesciencedb.jp
Nuclear Envelope 核膜 MeSH lifesciencedb.jp
Central Nervous System 中枢神経系 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 10 ヒト第10染色体 MeSH lifesciencedb.jp
Spine 脊柱 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 19 ヒト第19染色体 MeSH lifesciencedb.jp
Muscle, Skeletal 骨格筋 MeSH lifesciencedb.jp



Organisms

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MeSH term Japanese Link 01
Mice マウス MeSH lifesciencedb.jp
Mice, Transgenic トランスジェニックマウス MeSH lifesciencedb.jp
Mice, Neurologic Mutants 神経性変異マウス MeSH lifesciencedb.jp
Humans ヒト MeSH lifesciencedb.jp
Animals 動物 MeSH lifesciencedb.jp
Mice, Inbred BALB C BALB Cマウス MeSH lifesciencedb.jp
Mice, Knockout ノックアウトマウス MeSH lifesciencedb.jp



Database Center for Life Science