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01 133700 - EXOSTOSES, MULTIPLE, TYPE I 骨軟骨腫-多発性遺伝性 OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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MeSH term Japanese Link 01
Exostoses, Multiple Hereditary 骨軟骨腫-多発性遺伝性 MeSH lifesciencedb.jp
Langer-Giedion Syndrome Langer-Giedion症候群 MeSH lifesciencedb.jp
Chondrosarcoma 軟骨肉腫 MeSH lifesciencedb.jp
Bone Neoplasms 骨腫瘍 MeSH lifesciencedb.jp
Osteochondroma 骨軟骨腫 MeSH lifesciencedb.jp
Translocation, Genetic 転座 MeSH lifesciencedb.jp
Horse Diseases ウマの疾病 MeSH lifesciencedb.jp
Chondroma 軟骨腫 MeSH lifesciencedb.jp
Exostoses 外骨症 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Spinal Cord Compression 脊髄圧迫 MeSH lifesciencedb.jp
Chondroblastoma 軟骨芽細胞腫 MeSH lifesciencedb.jp
Osteochondromatosis 骨軟骨腫症 MeSH lifesciencedb.jp
Bone Diseases, Developmental 骨発育異常 MeSH lifesciencedb.jp
Spinal Neoplasms 脊椎腫瘍 MeSH lifesciencedb.jp
Camurati-Engelmann Syndrome 骨幹性異形成-進行性 MeSH lifesciencedb.jp
Neoplasms 腫瘍 MeSH lifesciencedb.jp
Osteochondrodysplasias 骨軟骨形成異常症 MeSH lifesciencedb.jp
Pregnancy Complications 妊娠合併症 MeSH lifesciencedb.jp
Rickets くる病 MeSH lifesciencedb.jp
Cleidocranial Dysplasia 鎖骨頭蓋異形成症 MeSH lifesciencedb.jp
Spinal Cord Diseases 脊髄疾患 MeSH lifesciencedb.jp
Neurofibromatosis 1 神経線維腫症1型 MeSH lifesciencedb.jp
Chromosome Inversion 染色体逆位 MeSH lifesciencedb.jp
Paraplegia 対麻痺 MeSH lifesciencedb.jp
Spinal Diseases 脊椎疾患 MeSH lifesciencedb.jp
Nails, Malformed 爪-変形 MeSH lifesciencedb.jp
Achondroplasia 軟骨形成不全症 MeSH lifesciencedb.jp
Genetic Diseases, Inborn 遺伝性疾患 MeSH lifesciencedb.jp
Marfan Syndrome Marfan症候群 MeSH lifesciencedb.jp
Neoplasms, Multiple Primary 腫瘍-多発性原発 MeSH lifesciencedb.jp
Calcinosis 石灰沈着症 MeSH lifesciencedb.jp
Hand Deformities, Congenital 手の形態異常-先天性 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp



Chemicals

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MeSH term Japanese Link 01
N-Acetylglucosaminyltransferases N-アセチルグルコサミニルトランスフェラーゼ MeSH lifesciencedb.jp
Proteins 蛋白質 MeSH lifesciencedb.jp
N-Acetylhexosaminyltransferases N-アセチルヘキソサミニルトランスフェラーゼ MeSH lifesciencedb.jp
DNA Primers プライマー-DNA MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp
Polymers ポリマー MeSH lifesciencedb.jp
Tumor Suppressor Proteins 腫瘍抑制蛋白質 MeSH lifesciencedb.jp
Heparitin Sulfate ヘパラン硫酸 MeSH lifesciencedb.jp
Fibroblast Growth Factors 線維芽細胞増殖因子 MeSH lifesciencedb.jp
Glycosaminoglycans グリコサミノグリカン MeSH lifesciencedb.jp
Membrane Proteins 膜蛋白質 MeSH lifesciencedb.jp
DNA Probes DNA遺伝子プローブ 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 8 ヒト第8染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 11 ヒト第11染色体 MeSH lifesciencedb.jp
Translocation, Genetic 転座 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 19 ヒト第19染色体 MeSH lifesciencedb.jp
Genes, Tumor Suppressor 癌抑制遺伝子 MeSH lifesciencedb.jp
Sex Ratio 性比 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Genetic Heterogeneity 遺伝的異質性 MeSH lifesciencedb.jp
Frameshift Mutation フレームシフト変異 MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Chromosomes, Artificial, Yeast 酵母人工染色体 MeSH lifesciencedb.jp
Genes, Dominant 優性遺伝子 MeSH lifesciencedb.jp
Chromosomes, Human, 6-12 and X ヒト第6-12およびX染色体 MeSH lifesciencedb.jp
Polymorphism, Single-Stranded Conformational PCR-SSCP法 MeSH lifesciencedb.jp
Pregnancy, High-Risk ハイリスク妊娠 MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp
Carbohydrate Metabolism 糖代謝 MeSH lifesciencedb.jp
Introns イントロン MeSH lifesciencedb.jp
Likelihood Functions 尤度関数 MeSH lifesciencedb.jp
Chromosome Inversion 染色体逆位 MeSH lifesciencedb.jp
Cosmids コスミド MeSH lifesciencedb.jp
Maternal Age 母性年齢 MeSH lifesciencedb.jp
Mutagenesis, Insertional 挿入型変異誘発 MeSH lifesciencedb.jp
Gene Library 遺伝子ライブラリー MeSH lifesciencedb.jp
Pathology 病理学 MeSH lifesciencedb.jp
Gene Deletion 遺伝子欠失 MeSH lifesciencedb.jp
Structure-Activity Relationship 構造活性相関 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 13 ヒト第13染色体 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 14 ヒト第14染色体 MeSH lifesciencedb.jp
Protein Biosynthesis 蛋白質生合成 MeSH lifesciencedb.jp
Consanguinity 血族 MeSH lifesciencedb.jp
Statistics as Topic Statistics as Topic MeSH lifesciencedb.jp
Loss of Heterozygosity ヘテロ接合性の消失 MeSH lifesciencedb.jp
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Genetics, Medical 医科遺伝学 MeSH lifesciencedb.jp
Age Distribution 年齢分布 MeSH lifesciencedb.jp
Age of Onset 発病年齢 MeSH lifesciencedb.jp
Repetitive Sequences, Nucleic Acid 核酸反復配列 MeSH lifesciencedb.jp
Gene Frequency 遺伝子頻度 MeSH lifesciencedb.jp
Exons エクソン MeSH lifesciencedb.jp
Promoter Regions, Genetic プロモーター領域 MeSH lifesciencedb.jp
Pregnancy 妊娠 MeSH lifesciencedb.jp
Polymorphism, Genetic 遺伝子多型 MeSH lifesciencedb.jp
Sequence Deletion 配列欠失 MeSH lifesciencedb.jp
Microsatellite Repeats マイクロサテライトリピート MeSH lifesciencedb.jp
Gene Expression 遺伝子発現 MeSH lifesciencedb.jp
Incidence 発生率 MeSH lifesciencedb.jp
Point Mutation 点変異 MeSH lifesciencedb.jp
Cohort Studies コホート研究 MeSH lifesciencedb.jp
Alleles 対立遺伝子 MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Heterozygote ヘテロ接合体 MeSH lifesciencedb.jp
Retrospective Studies 後向き研究 MeSH lifesciencedb.jp



Anatomy

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MeSH term Japanese Link 01
Chromosomes, Human, Pair 8 ヒト第8染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 11 ヒト第11染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 19 ヒト第19染色体 MeSH lifesciencedb.jp
Chromosomes, Artificial, Yeast 酵母人工染色体 MeSH lifesciencedb.jp
Chromosomes, Human, 6-12 and X ヒト第6-12およびX染色体 MeSH lifesciencedb.jp
Intervertebral Disc 椎間板 MeSH lifesciencedb.jp
Scapula 肩甲骨 MeSH lifesciencedb.jp
Thoracic Vertebrae 胸椎 MeSH lifesciencedb.jp
Ribs 肋骨 MeSH lifesciencedb.jp
Urine 尿 MeSH lifesciencedb.jp
Cell Line 細胞系 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 13 ヒト第13染色体 MeSH lifesciencedb.jp
Leg 下腿 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 14 ヒト第14染色体 MeSH lifesciencedb.jp
Hybrid Cells ハイブリッド細胞 MeSH lifesciencedb.jp
Fingers 手指 MeSH lifesciencedb.jp
Bone and Bones MeSH lifesciencedb.jp



Organisms

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



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