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01 187600 TD1 THANATOPHORIC DYSPLASIA, TYPE I - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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 MeSH term Japanese Link 01
Thanatophoric Dysplasia 骨異形成症-致死性 MeSH lifesciencedb.jp
Osteochondrodysplasias 骨軟骨形成異常症 MeSH lifesciencedb.jp
Dwarfism 低身長症 MeSH lifesciencedb.jp
Achondroplasia 軟骨形成不全症 MeSH lifesciencedb.jp
Infant, Newborn, Diseases 新生児疾患 MeSH lifesciencedb.jp
Chondrodysplasia Punctata 点状軟骨異形成症 MeSH lifesciencedb.jp
Fetal Diseases 胎児疾患 MeSH lifesciencedb.jp
Ellis-Van Creveld Syndrome Ellis-van Creveld症候群 MeSH lifesciencedb.jp
Craniofacial Dysostosis 頭蓋顔面異骨症 MeSH lifesciencedb.jp
Diseases in Twins 双生児の疾患 MeSH lifesciencedb.jp
Bone Diseases, Developmental 骨発育異常 MeSH lifesciencedb.jp
Mucopolysaccharidosis IV ムコ多糖症IV型 MeSH lifesciencedb.jp
Hydrocephalus 水頭症 MeSH lifesciencedb.jp
Osteogenesis Imperfecta 骨形成不全症 MeSH lifesciencedb.jp
Fetal Death 胎児死亡 MeSH lifesciencedb.jp
Polyhydramnios 羊水過多症 MeSH lifesciencedb.jp
Nervous System Malformations 神経系奇形 MeSH lifesciencedb.jp
Ossification, Heterotopic 化骨-異所性 MeSH lifesciencedb.jp
Multicystic Dysplastic Kidney 多嚢胞性異形成腎 MeSH lifesciencedb.jp
Exostoses, Multiple Hereditary 骨軟骨腫-多発性遺伝性 MeSH lifesciencedb.jp
Fetal Alcohol Syndrome 胎児性アルコール症候群 MeSH lifesciencedb.jp
Hyperostosis 骨化過剰症 MeSH lifesciencedb.jp
Carcinoma, Transitional Cell 移行上皮癌 MeSH lifesciencedb.jp
Limb Deformities, Congenital 四肢奇形-先天性 MeSH lifesciencedb.jp
Fractures, Spontaneous 骨折-自然 MeSH lifesciencedb.jp
Acanthosis Nigricans 黒色棘細胞増殖症 MeSH lifesciencedb.jp
Hearing Loss, Bilateral 難聴-両側性 MeSH lifesciencedb.jp
Chromosome Disorders 染色体疾患 MeSH lifesciencedb.jp
Urinary Bladder Neoplasms 膀胱腫瘍 MeSH lifesciencedb.jp
Synostosis 骨癒合症 MeSH lifesciencedb.jp
Birth Weight 出生体重 MeSH lifesciencedb.jp
Mucopolysaccharidoses ムコ多糖症 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Bone Diseases 骨疾患 MeSH lifesciencedb.jp
Cell Transformation, Neoplastic 腫瘍細胞形質転換 MeSH lifesciencedb.jp
Craniosynostoses 頭蓋骨癒合症 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Craniofacial Abnormalities 頭蓋顔面奇形 MeSH lifesciencedb.jp
Hearing Loss, Sensorineural 難聴-内耳性 MeSH lifesciencedb.jp
Body Weight 体重 MeSH lifesciencedb.jp
Pregnancy Complications 妊娠合併症 MeSH lifesciencedb.jp
Translocation, Genetic 転座 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp
Recurrence 再発 MeSH lifesciencedb.jp
Disease Models, Animal 疾患モデル(動物) MeSH lifesciencedb.jp
Disease Progression 病勢悪化 MeSH lifesciencedb.jp
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp


Chemicals

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 MeSH term Japanese Link 01
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
Protein-Tyrosine Kinases Protein-Tyrosine Kinases MeSH lifesciencedb.jp
Cysteine システイン MeSH lifesciencedb.jp
Receptor, Fibroblast Growth Factor, Type 1 線維芽細胞増殖因子受容体-1 MeSH lifesciencedb.jp
STAT1 Transcription Factor STAT1転写因子 MeSH lifesciencedb.jp
Receptor, Fibroblast Growth Factor, Type 2 線維芽細胞増殖因子受容体-2 MeSH lifesciencedb.jp
Receptor Protein-Tyrosine Kinases 受容体型プロテイン-チロシンキナーゼ MeSH lifesciencedb.jp
Fibroblast Growth Factor 2 線維芽細胞増殖因子2 MeSH lifesciencedb.jp
Collagen Type X コラーゲンX型 MeSH lifesciencedb.jp
Cytidine シチジン MeSH lifesciencedb.jp
STAT5 Transcription Factor STAT5転写因子 MeSH lifesciencedb.jp
Parathyroid Hormone-Related Protein 上皮小体ホルモン関連蛋白質 MeSH lifesciencedb.jp
Milk Proteins 乳蛋白質 MeSH lifesciencedb.jp
Bradykinin ブラジキニン MeSH lifesciencedb.jp
Potassium Chloride 塩化カリウム MeSH lifesciencedb.jp
Heparan Sulfate Proteoglycans Heparan Sulfate Proteoglycans MeSH lifesciencedb.jp
Mitogen-Activated Protein Kinase 3 MAPキナーゼ3 MeSH lifesciencedb.jp
Mitogen-Activated Protein Kinase 1 マイトジェン活性化プロテインキナーゼ1 MeSH lifesciencedb.jp
Thymine チミン MeSH lifesciencedb.jp
Calcium-Calmodulin-Dependent Protein Kinases カルシウム-カルモジュリン依存性プロテインキナーゼ MeSH lifesciencedb.jp
Trans-Activators トランスアクチベーター MeSH lifesciencedb.jp
Cyclin-Dependent Kinase Inhibitor p21 サイクリン依存性キナーゼインヒビターp21 MeSH lifesciencedb.jp
Cyclins サイクリン 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
DNA Primers プライマー-DNA MeSH lifesciencedb.jp
Insulin-Like Growth Factor II インスリン様成長因子II MeSH lifesciencedb.jp
Collagen Type II コラーゲンII型 MeSH lifesciencedb.jp
Tyrosine チロシン MeSH lifesciencedb.jp
Methionine メチオニン MeSH lifesciencedb.jp
Proteoglycans プロテオグリカン MeSH lifesciencedb.jp
Insulin-Like Growth Factor I インスリン様成長因子I MeSH lifesciencedb.jp
Lysine リジン MeSH lifesciencedb.jp
Glycosaminoglycans グリコサミノグリカン MeSH lifesciencedb.jp
DNA Restriction Enzymes 制限酵素 MeSH lifesciencedb.jp
Transforming Growth Factor beta トランスフォーミング増殖因子ベータ MeSH lifesciencedb.jp
Extracellular Matrix Proteins 細胞外マトリックス蛋白質 MeSH lifesciencedb.jp
Arginine アルギニン MeSH lifesciencedb.jp
DNA-Binding Proteins DNA結合タンパク MeSH lifesciencedb.jp
DNA, Mitochondrial ミトコンドリアDNA MeSH lifesciencedb.jp
Calcium カルシウム MeSH lifesciencedb.jp
Glycoproteins 糖蛋白質 MeSH lifesciencedb.jp
Recombinant Proteins 組換え蛋白質 MeSH lifesciencedb.jp
Collagen 膠原 MeSH lifesciencedb.jp
RNA, Messenger メッセンジャーRNA 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
Pregnancy 妊娠 MeSH lifesciencedb.jp
Gestational Age 在胎月齢 MeSH lifesciencedb.jp
Genes, Lethal 致死遺伝子 MeSH lifesciencedb.jp
Paternal Age 父性年齢 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Infant Mortality 乳児死亡率 MeSH lifesciencedb.jp
Cell Division 細胞分裂 MeSH lifesciencedb.jp
Twins 双生児 MeSH lifesciencedb.jp
Twins, Monozygotic 一卵性双生児 MeSH lifesciencedb.jp
Body Patterning ボディパターニング MeSH lifesciencedb.jp
Birth Order 出生順位 MeSH lifesciencedb.jp
Point Mutation 点変異 MeSH lifesciencedb.jp
Pregnancy Trimester, Second 妊娠中期 MeSH lifesciencedb.jp
Cell Differentiation 細胞分化 MeSH lifesciencedb.jp
Enzyme Activation 酵素活性化 MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Maternal Age 母性年齢 MeSH lifesciencedb.jp
Histology 組織学 MeSH lifesciencedb.jp
Radiology 放射線医学 MeSH lifesciencedb.jp
Birth Rate 出生率 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 10 ヒト第10染色体 MeSH lifesciencedb.jp
Genes, bcl-2 bcl-2遺伝子 MeSH lifesciencedb.jp
Diploidy 二倍性 MeSH lifesciencedb.jp
Family Characteristics 家族特性 MeSH lifesciencedb.jp
Polymorphism, Single-Stranded Conformational PCR-SSCP法 MeSH lifesciencedb.jp
Base Composition 塩基組成 MeSH lifesciencedb.jp
Osteogenesis 骨形成 MeSH lifesciencedb.jp
Pregnancy Trimester, First 妊娠前期 MeSH lifesciencedb.jp
Morphogenesis 形態形成 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Body Height 身長 MeSH lifesciencedb.jp
Regional Blood Flow 局所血流 MeSH lifesciencedb.jp
Registries 登録 MeSH lifesciencedb.jp
Embryonic and Fetal Development 胚と胎児の成長 MeSH lifesciencedb.jp
Bone Development 骨発育 MeSH lifesciencedb.jp
Apoptosis アポトーシス MeSH lifesciencedb.jp
Phosphorylation リン酸化 MeSH lifesciencedb.jp
Cephalometry 頭部計測法 MeSH lifesciencedb.jp
Birth Weight 出生体重 MeSH lifesciencedb.jp
Epidemiologic Methods 疫学的方法 MeSH lifesciencedb.jp
Respiration 呼吸 MeSH lifesciencedb.jp
Gene Expression 遺伝子発現 MeSH lifesciencedb.jp
Mutagenesis, Insertional 挿入型変異誘発 MeSH lifesciencedb.jp
Fatal Outcome 致死的転帰 MeSH lifesciencedb.jp
Twins, Dizygotic 二卵性双生児 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Amino Acid Substitution アミノ酸置換 MeSH lifesciencedb.jp
Pregnancy Outcome 妊娠転帰 MeSH lifesciencedb.jp
Cell Proliferation 細胞増殖 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Protein Conformation 蛋白質高次構造 MeSH lifesciencedb.jp
RNA Splicing RNAスプライシング MeSH lifesciencedb.jp
Mosaicism モザイク現象 MeSH lifesciencedb.jp
Body Weight 体重 MeSH lifesciencedb.jp
Binding Sites 結合部位 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
Genetic Heterogeneity 遺伝的異質性 MeSH lifesciencedb.jp
Protein Structure, Tertiary 蛋白質三次構造 MeSH lifesciencedb.jp
Homozygote ホモ接合体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 1 ヒト第1染色体 MeSH lifesciencedb.jp
Risk リスク MeSH lifesciencedb.jp
Germ-Line Mutation 生殖細胞系変異 MeSH lifesciencedb.jp
Heterozygote ヘテロ接合体 MeSH lifesciencedb.jp
Translocation, Genetic 転座 MeSH lifesciencedb.jp
Sequence Homology, Amino Acid アミノ酸配列相同性 MeSH lifesciencedb.jp
Risk Factors 危険因子 MeSH lifesciencedb.jp
Transfection トランスフェクション MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Gene Expression Regulation 遺伝子発現調節 MeSH lifesciencedb.jp
Signal Transduction シグナルトランスダクション MeSH lifesciencedb.jp
Gene Deletion 遺伝子欠失 MeSH lifesciencedb.jp
Cross-Sectional Studies 断面研究 MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp
Genetic Variation 遺伝的多様性 MeSH lifesciencedb.jp
Immunohistochemistry 免疫組織化学 MeSH lifesciencedb.jp
Genes, Dominant 優性遺伝子 MeSH lifesciencedb.jp
Case-Control Studies 症例対照研究 MeSH lifesciencedb.jp
Consanguinity 血族 MeSH lifesciencedb.jp
Exons エクソン MeSH lifesciencedb.jp
Lod Score ロッドスコア MeSH lifesciencedb.jp
Alleles 対立遺伝子 MeSH lifesciencedb.jp
Polymorphism, Restriction Fragment Length 制限酵素断片長多型 MeSH lifesciencedb.jp


Anatomy

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 MeSH term Japanese Link 01
Growth Plate 成長板 MeSH lifesciencedb.jp
Skull 頭蓋骨 MeSH lifesciencedb.jp
Bone and Bones 骨 MeSH lifesciencedb.jp
Chondrocytes 軟骨細胞 MeSH lifesciencedb.jp
Femur 大腿骨 MeSH lifesciencedb.jp
Cartilage 軟骨 MeSH lifesciencedb.jp
Fetus 胎児 MeSH lifesciencedb.jp
Spine 脊柱 MeSH lifesciencedb.jp
Pelvis 骨盤 MeSH lifesciencedb.jp
Thorax 胸郭 MeSH lifesciencedb.jp
Aborted Fetus 中絶胎児 MeSH lifesciencedb.jp
3T3 Cells 3T3細胞 MeSH lifesciencedb.jp
Temporal Lobe 側頭葉 MeSH lifesciencedb.jp
Arm 上腕 MeSH lifesciencedb.jp
Intervertebral Disc 椎間板 MeSH lifesciencedb.jp
Endoplasmic Reticulum, Rough 粗面小胞体 MeSH lifesciencedb.jp
Mandibular Condyle 下顎骨関節突起 MeSH lifesciencedb.jp
Lateral Ventricles 側脳室 MeSH lifesciencedb.jp
Leg 下腿 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 10 ヒト第10染色体 MeSH lifesciencedb.jp
Urinary Tract 尿路 MeSH lifesciencedb.jp
Veins 静脈 MeSH lifesciencedb.jp
PC12 Cells PC12細胞 MeSH lifesciencedb.jp
Hip 股関節部 MeSH lifesciencedb.jp
Hippocampus 海馬 MeSH lifesciencedb.jp
Occipital Lobe 後頭葉 MeSH lifesciencedb.jp
Neck 頸部 MeSH lifesciencedb.jp
Head 頭部 MeSH lifesciencedb.jp
Ulna 尺骨 MeSH lifesciencedb.jp
Ribs 肋骨 MeSH lifesciencedb.jp
Cerebral Ventricles 脳室 MeSH lifesciencedb.jp
Mandible 下顎骨 MeSH lifesciencedb.jp
Extremities 四肢 MeSH lifesciencedb.jp
Radius 橈骨 MeSH lifesciencedb.jp
Neuroglia 神経膠 MeSH lifesciencedb.jp
Heart 心臓 MeSH lifesciencedb.jp
Basal Ganglia 基底核 MeSH lifesciencedb.jp
Lumbar Vertebrae 腰椎 MeSH lifesciencedb.jp
Nose 鼻 MeSH lifesciencedb.jp
Foot 足 MeSH lifesciencedb.jp
Brain 脳 MeSH lifesciencedb.jp
Neurons ニューロン MeSH lifesciencedb.jp
Facial Bones 顔面骨 MeSH lifesciencedb.jp
Cartilage, Articular 関節軟骨 MeSH lifesciencedb.jp
Toes 足指 MeSH lifesciencedb.jp
Bronchi 気管支 MeSH lifesciencedb.jp
Inclusion Bodies 封入体 MeSH lifesciencedb.jp
Hand 手 MeSH lifesciencedb.jp
Cerebellum 小脳 MeSH lifesciencedb.jp
Fingers 手指 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 1 ヒト第1染色体 MeSH lifesciencedb.jp
Cell Line 細胞系 MeSH lifesciencedb.jp
Cerebral Cortex 大脳皮質 MeSH lifesciencedb.jp
Fibroblasts 線維芽細胞 MeSH lifesciencedb.jp
Lung 肺 MeSH lifesciencedb.jp
Cells, Cultured 培養細胞 MeSH lifesciencedb.jp
Liver 肝臓 MeSH lifesciencedb.jp
Muscles 筋 MeSH lifesciencedb.jp


Organisms

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 MeSH term Japanese Link 01
Animals, Newborn 新生仔 MeSH lifesciencedb.jp
Humans ヒト MeSH lifesciencedb.jp
Mice, Knockout ノックアウトマウス MeSH lifesciencedb.jp
Mice, Transgenic トランスジェニックマウス MeSH lifesciencedb.jp
Animals 動物 MeSH lifesciencedb.jp
Rats ラット MeSH lifesciencedb.jp
Mice マウス MeSH lifesciencedb.jp


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