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01 127300 LWD LERI-WEILL DYSCHONDROSTEOSIS - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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MeSH term Japanese Link 01
Osteochondrodysplasias 骨軟骨形成異常症 MeSH lifesciencedb.jp
Turner Syndrome Turner症候群 MeSH lifesciencedb.jp
Growth Disorders 成長障害 MeSH lifesciencedb.jp
Dwarfism 低身長症 MeSH lifesciencedb.jp
Bone Diseases, Developmental 骨発育異常 MeSH lifesciencedb.jp
Translocation, Genetic 転座 MeSH lifesciencedb.jp
Dislocations 脱臼 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Hodgkin Disease Hodgkin病 MeSH lifesciencedb.jp
Limb Deformities, Congenital 四肢奇形-先天性 MeSH lifesciencedb.jp
Osteochondritis 骨軟骨炎 MeSH lifesciencedb.jp
Musculoskeletal Abnormalities 筋骨格系奇形 MeSH lifesciencedb.jp
Puberty, Delayed 思春期遅発症 MeSH lifesciencedb.jp
Ellis-Van Creveld Syndrome Ellis-van Creveld症候群 MeSH lifesciencedb.jp
Weight Gain 体重増加 MeSH lifesciencedb.jp
Monosomy モノソミー MeSH lifesciencedb.jp
Neurofibromatosis 1 神経線維腫症1型 MeSH lifesciencedb.jp
Scoliosis 脊柱側彎症 MeSH lifesciencedb.jp
Noonan Syndrome Noonan症候群 MeSH lifesciencedb.jp
Bone Diseases 骨疾患 MeSH lifesciencedb.jp
Achondroplasia 軟骨形成不全症 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp
Genetic Diseases, Inborn 遺伝性疾患 MeSH lifesciencedb.jp
Congenital Abnormalities 奇形 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Hand Deformities, Congenital 手の形態異常-先天性 MeSH lifesciencedb.jp
Deafness MeSH lifesciencedb.jp
Genetic Predisposition to Disease 遺伝的素因(疾患) MeSH lifesciencedb.jp



Chemicals

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MeSH term Japanese Link 01
Homeodomain Proteins ホメオドメイン蛋白質 MeSH lifesciencedb.jp
Transcription Factors 転写因子 MeSH lifesciencedb.jp
Sex-Determining Region Y Protein SRY遺伝子産物 MeSH lifesciencedb.jp
Radium ラジウム MeSH lifesciencedb.jp
Receptor, Fibroblast Growth Factor, Type 3 線維芽細胞増殖因子受容体-3 MeSH lifesciencedb.jp
Receptors, Fibroblast Growth Factor 線維芽細胞増殖因子受容体 MeSH lifesciencedb.jp
Receptor, PAR-1 プロテアーゼ活性化受容体1 MeSH lifesciencedb.jp
Protein-Tyrosine Kinases Protein-Tyrosine Kinases MeSH lifesciencedb.jp
Nuclear Localization Signals 核移行シグナル MeSH lifesciencedb.jp
Basic Helix-Loop-Helix Transcription Factors Basic Helix-Loop-Helix Transcription Factors MeSH lifesciencedb.jp
Zebrafish Proteins ゼブラフィッシュ蛋白質 MeSH lifesciencedb.jp
HLA-DP Antigens HLA-DP抗原 MeSH lifesciencedb.jp
Receptors, Calcitriol カルシトリオール受容体 MeSH lifesciencedb.jp
DNA-Binding Proteins DNA結合タンパク MeSH lifesciencedb.jp
Histocompatibility Antigens Class I 組織適合抗原I MeSH lifesciencedb.jp
Human Growth Hormone ヒト成長ホルモン MeSH lifesciencedb.jp
Nuclear Proteins 核内蛋白質 MeSH lifesciencedb.jp
DNA デオキシリボ核酸 MeSH lifesciencedb.jp
Growth Hormone 成長ホルモン MeSH lifesciencedb.jp
Codon, Nonsense ナンセンスコドン MeSH lifesciencedb.jp
Histocompatibility Antigens Class II 組織適合抗原II MeSH lifesciencedb.jp
HLA Antigens HLA抗原 MeSH lifesciencedb.jp
DNA, Complementary 相補的DNA MeSH lifesciencedb.jp
DNA Primers プライマー-DNA MeSH lifesciencedb.jp



Biological Phenomena

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MeSH term Japanese Link 01
Body Height 身長 MeSH lifesciencedb.jp
Gene Deletion 遺伝子欠失 MeSH lifesciencedb.jp
Genes, Homeobox ホメオボックス遺伝子 MeSH lifesciencedb.jp
Translocation, Genetic 転座 MeSH lifesciencedb.jp
Point Mutation 点変異 MeSH lifesciencedb.jp
Chromosomes, Human, 1-3 ヒト第1-3染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 2 ヒト第2染色体 MeSH lifesciencedb.jp
Bone Conduction 骨伝導 MeSH lifesciencedb.jp
Y Chromosome Y染色体 MeSH lifesciencedb.jp
Genetic Heterogeneity 遺伝的異質性 MeSH lifesciencedb.jp
Anthropometry 身体計測 MeSH lifesciencedb.jp
Chromosomes, Human, X ヒトX染色体 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Sex Determination Processes 性決定(遺伝学) MeSH lifesciencedb.jp
Chromosomes, Human, 6-12 and X ヒト第6-12およびX染色体 MeSH lifesciencedb.jp
Sex Chromosomes 性染色体 MeSH lifesciencedb.jp
Nuclear Localization Signals 核移行シグナル MeSH lifesciencedb.jp
Homozygote ホモ接合体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 8 ヒト第8染色体 MeSH lifesciencedb.jp
Body Constitution 体質 MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Active Transport, Cell Nucleus 細胞核能動輸送 MeSH lifesciencedb.jp
Genes, Dominant 優性遺伝子 MeSH lifesciencedb.jp
Weight Gain 体重増加 MeSH lifesciencedb.jp
X Chromosome X染色体 MeSH lifesciencedb.jp
Dimerization 二量化 MeSH lifesciencedb.jp
Monosomy モノソミー MeSH lifesciencedb.jp
Consensus Sequence コンセンサス配列 MeSH lifesciencedb.jp
Sex Factors 性因子(疫学) MeSH lifesciencedb.jp
Bone Development 骨発育 MeSH lifesciencedb.jp
Recombination, Genetic 遺伝子組換え MeSH lifesciencedb.jp
Puberty 思春期 MeSH lifesciencedb.jp
Cosmids コスミド MeSH lifesciencedb.jp
Evolution, Molecular 分子進化 MeSH lifesciencedb.jp
Transcriptional Activation - MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Mutagenesis, Insertional 挿入型変異誘発 MeSH lifesciencedb.jp
Growth 成長 MeSH lifesciencedb.jp
Sequence Homology, Amino Acid アミノ酸配列相同性 MeSH lifesciencedb.jp
Cohort Studies コホート研究 MeSH lifesciencedb.jp
Cell Cycle 細胞周期 MeSH lifesciencedb.jp
Polymorphism, Single Nucleotide 一塩基多型 MeSH lifesciencedb.jp
Sex Characteristics 性徴 MeSH lifesciencedb.jp
Sequence Deletion 配列欠失 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Loss of Heterozygosity ヘテロ接合性の消失 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 12 ヒト第12染色体 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Codon, Nonsense ナンセンスコドン MeSH lifesciencedb.jp
Genome, Human ヒトゲノム MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Genomic Imprinting 遺伝子刷り込み MeSH lifesciencedb.jp
Chi-Square Distribution カイ二乗分布 MeSH lifesciencedb.jp
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Lod Score ロッドスコア MeSH lifesciencedb.jp
Frameshift Mutation フレームシフト変異 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 15 ヒト第15染色体 MeSH lifesciencedb.jp
Retrospective Studies 後向き研究 MeSH lifesciencedb.jp
Microsatellite Repeats マイクロサテライトリピート MeSH lifesciencedb.jp
Risk Factors 危険因子 MeSH lifesciencedb.jp
Alleles 対立遺伝子 MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Prevalence 有病率 MeSH lifesciencedb.jp
Haplotypes ハプロタイプ MeSH lifesciencedb.jp
Pregnancy 妊娠 MeSH lifesciencedb.jp
Heterozygote ヘテロ接合体 MeSH lifesciencedb.jp
Genetic Predisposition to Disease 遺伝的素因(疾患) MeSH lifesciencedb.jp
Exons エクソン MeSH lifesciencedb.jp
Immunohistochemistry 免疫組織化学 MeSH lifesciencedb.jp
Sensitivity and Specificity 感度と特異度 MeSH lifesciencedb.jp
Case-Control Studies 症例対照研究 MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp
Gene Frequency 遺伝子頻度 MeSH lifesciencedb.jp



Anatomy

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MeSH term Japanese Link 01
Wrist 手首 MeSH lifesciencedb.jp
Ulna 尺骨 MeSH lifesciencedb.jp
Radius 橈骨 MeSH lifesciencedb.jp
Forearm 前腕 MeSH lifesciencedb.jp
Metacarpus 中手骨 MeSH lifesciencedb.jp
Carpal Bones 手根骨 MeSH lifesciencedb.jp
Fibula 腓骨 MeSH lifesciencedb.jp
Chromosomes, Human, 1-3 ヒト第1-3染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 2 ヒト第2染色体 MeSH lifesciencedb.jp
Tibia 脛骨 MeSH lifesciencedb.jp
Y Chromosome Y染色体 MeSH lifesciencedb.jp
Chromosomes, Human, X ヒトX染色体 MeSH lifesciencedb.jp
Leg 下腿 MeSH lifesciencedb.jp
Chromosomes, Human, 6-12 and X ヒト第6-12およびX染色体 MeSH lifesciencedb.jp
Sex Chromosomes 性染色体 MeSH lifesciencedb.jp
Lumbosacral Region 腰仙部 MeSH lifesciencedb.jp
Bone and Bones MeSH lifesciencedb.jp
Chromosomes, Human, Pair 8 ヒト第8染色体 MeSH lifesciencedb.jp
Elbow MeSH lifesciencedb.jp
Ear, Middle 中耳 MeSH lifesciencedb.jp
X Chromosome X染色体 MeSH lifesciencedb.jp
Palate 口蓋 MeSH lifesciencedb.jp
Cell Nucleus 細胞核 MeSH lifesciencedb.jp
Metacarpophalangeal Joint 中手指節関節 MeSH lifesciencedb.jp
Mandible 下顎骨 MeSH lifesciencedb.jp
Chondrocytes 軟骨細胞 MeSH lifesciencedb.jp
Wrist Joint 手関節 MeSH lifesciencedb.jp
Cervical Vertebrae 頸椎 MeSH lifesciencedb.jp
Arm 上腕 MeSH lifesciencedb.jp
Spine 脊柱 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 12 ヒト第12染色体 MeSH lifesciencedb.jp
Fetus 胎児 MeSH lifesciencedb.jp
Cell Line, Tumor 腫瘍細胞系 MeSH lifesciencedb.jp
Hand MeSH lifesciencedb.jp
Chromosomes, Human, Pair 15 ヒト第15染色体 MeSH lifesciencedb.jp
Cell Line 細胞系 MeSH lifesciencedb.jp



Organisms

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MeSH term Japanese Link 01
Humans ヒト MeSH lifesciencedb.jp



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