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01 150230 TRPS2 TRICHORHINOPHALANGEAL SYNDROME, TYPE II Langer-Giedion症候群 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
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Langer-Giedion Syndrome Langer-Giedion症候群 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp
Osteochondroma 骨軟骨腫 MeSH lifesciencedb.jp
Bone Neoplasms 骨腫瘍 MeSH lifesciencedb.jp
Nose Deformities, Acquired 鼻形態異常-後天性 MeSH lifesciencedb.jp
Growth Disorders 成長障害 MeSH lifesciencedb.jp
Hematometra 子宮留血症 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Chromosome Disorders 染色体疾患 MeSH lifesciencedb.jp
Microcephaly 小頭症 MeSH lifesciencedb.jp
Chromosome Inversion 染色体逆位 MeSH lifesciencedb.jp
Psychomotor Disorders 精神運動障害 MeSH lifesciencedb.jp
Prune Belly Syndrome Prune Belly症候群 MeSH lifesciencedb.jp
Translocation, Genetic 転座 MeSH lifesciencedb.jp
Hyperkinesis 運動亢進 MeSH lifesciencedb.jp
Vesico-Ureteral Reflux 膀胱尿管逆流 MeSH lifesciencedb.jp
Chondroma 軟骨腫 MeSH lifesciencedb.jp
Osteochondritis 骨軟骨炎 MeSH lifesciencedb.jp
Psychophysiologic Disorders 心身症 MeSH lifesciencedb.jp
Exostoses 外骨症 MeSH lifesciencedb.jp
Mitral Valve Prolapse 僧帽弁逸脱 MeSH lifesciencedb.jp
Osteosarcoma 骨肉腫 MeSH lifesciencedb.jp
Dwarfism 低身長症 MeSH lifesciencedb.jp
Abdominal Pain 腹痛 MeSH lifesciencedb.jp
Ectromelia 欠肢症 MeSH lifesciencedb.jp
Bone Diseases 骨疾患 MeSH lifesciencedb.jp
Syndactyly 合指症 MeSH lifesciencedb.jp
Fetal Death 胎児死亡 MeSH lifesciencedb.jp
Foot Deformities, Congenital 足の形態異常-先天性 MeSH lifesciencedb.jp
Seizures けいれん性発作 MeSH lifesciencedb.jp
Hand Deformities, Congenital 手の形態異常-先天性 MeSH lifesciencedb.jp
Osteochondrodysplasias 骨軟骨形成異常症 MeSH lifesciencedb.jp
Deafness MeSH lifesciencedb.jp



Chemicals

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MeSH term Japanese Link 01
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp
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
Thyroglobulin サイログロブリン MeSH lifesciencedb.jp
DNA Primers プライマー-DNA MeSH lifesciencedb.jp
Androgens アンドロゲン MeSH lifesciencedb.jp
Neoplasm Proteins 腫瘍蛋白質 MeSH lifesciencedb.jp
Nuclear Proteins 核内蛋白質 MeSH lifesciencedb.jp
Transcription Factors 転写因子 MeSH lifesciencedb.jp
DNA-Binding Proteins DNA結合タンパク MeSH lifesciencedb.jp
Proteins 蛋白質 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
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 8 ヒト第8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
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Chromosome Inversion 染色体逆位 MeSH lifesciencedb.jp
Chromosomes, Artificial, Yeast 酵母人工染色体 MeSH lifesciencedb.jp
Translocation, Genetic 転座 MeSH lifesciencedb.jp
Gene Deletion 遺伝子欠失 MeSH lifesciencedb.jp
Family Characteristics 家族特性 MeSH lifesciencedb.jp
Genomic Library ゲノムライブラリー MeSH lifesciencedb.jp
Polymorphism, Restriction Fragment Length 制限酵素断片長多型 MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp
Chromosomes, Human, 21-22 and Y ヒト第21-22およびY染色体 MeSH lifesciencedb.jp
Biological Evolution 進化 MeSH lifesciencedb.jp
Puberty 思春期 MeSH lifesciencedb.jp
Cephalometry 頭部計測法 MeSH lifesciencedb.jp
Mutagenesis, Insertional 挿入型変異誘発 MeSH lifesciencedb.jp
Centromere セントロメア MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Gene Amplification 遺伝子増幅 MeSH lifesciencedb.jp
Penetrance 浸透度(遺伝学) MeSH lifesciencedb.jp
Loss of Heterozygosity ヘテロ接合性の消失 MeSH lifesciencedb.jp
Genes, Dominant 優性遺伝子 MeSH lifesciencedb.jp
Mosaicism モザイク現象 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Protein Structure, Tertiary 蛋白質三次構造 MeSH lifesciencedb.jp
Nucleic Acid Hybridization 核酸ハイブリダイゼーション MeSH lifesciencedb.jp
Chromosomes, Human, Pair 11 ヒト第11染色体 MeSH lifesciencedb.jp
Recombination, Genetic 遺伝子組換え MeSH lifesciencedb.jp
Polymorphism, Single-Stranded Conformational PCR-SSCP法 MeSH lifesciencedb.jp
Gene Expression Regulation 遺伝子発現調節 MeSH lifesciencedb.jp
Apoptosis アポトーシス MeSH lifesciencedb.jp
Consanguinity 血族 MeSH lifesciencedb.jp
Sex Factors 性因子(疫学) MeSH lifesciencedb.jp
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Lod Score ロッドスコア MeSH lifesciencedb.jp
Age of Onset 発病年齢 MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp
Haplotypes ハプロタイプ MeSH lifesciencedb.jp
Pregnancy 妊娠 MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Alleles 対立遺伝子 MeSH lifesciencedb.jp
Polymorphism, Genetic 遺伝子多型 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, 6-12 and X ヒト第6-12およびX染色体 MeSH lifesciencedb.jp
Nose MeSH lifesciencedb.jp
Fingers 手指 MeSH lifesciencedb.jp
Hair MeSH lifesciencedb.jp
Epiphyses 骨端 MeSH lifesciencedb.jp
Face 顔面 MeSH lifesciencedb.jp
Ulna 尺骨 MeSH lifesciencedb.jp
Cloaca 総排泄腔 MeSH lifesciencedb.jp
Bone and Bones MeSH lifesciencedb.jp
Chromosomes, Artificial, Yeast 酵母人工染色体 MeSH lifesciencedb.jp
Facial Bones 顔面骨 MeSH lifesciencedb.jp
Femur Head 大腿骨頭 MeSH lifesciencedb.jp
Hybrid Cells ハイブリッド細胞 MeSH lifesciencedb.jp
Chromosomes, Human, 21-22 and Y ヒト第21-22およびY染色体 MeSH lifesciencedb.jp
Tibia 脛骨 MeSH lifesciencedb.jp
Radius 橈骨 MeSH lifesciencedb.jp
Arm 上腕 MeSH lifesciencedb.jp
Lymphocytes リンパ球 MeSH lifesciencedb.jp
Centromere セントロメア MeSH lifesciencedb.jp
Iris 虹彩 MeSH lifesciencedb.jp
Leg 下腿 MeSH lifesciencedb.jp
Spine 脊柱 MeSH lifesciencedb.jp
Hand MeSH lifesciencedb.jp
Skull 頭蓋骨 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 11 ヒト第11染色体 MeSH lifesciencedb.jp
Cell Line 細胞系 MeSH lifesciencedb.jp



Organisms

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MeSH term Japanese Link 01
Bacteriophage lambda バクテリオファージLambda MeSH lifesciencedb.jp
Cricetinae ハムスター類 MeSH lifesciencedb.jp
Animals 動物 MeSH lifesciencedb.jp
Humans ヒト MeSH lifesciencedb.jp



Database Center for Life Science