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01 215100 RCDP1 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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 MeSH term Japanese Link 01
Chondrodysplasia Punctata 点状軟骨異形成症 MeSH lifesciencedb.jp
Chondrodysplasia Punctata, Rhizomelic 点状軟骨異形成症-根性 MeSH lifesciencedb.jp
Peroxisomal Disorders ペルオキシソーム病 MeSH lifesciencedb.jp
Osteochondrodysplasias 骨軟骨形成異常症 MeSH lifesciencedb.jp
Cataract 白内障 MeSH lifesciencedb.jp
Infant, Newborn, Diseases 新生児疾患 MeSH lifesciencedb.jp
Refsum Disease Refsum病 MeSH lifesciencedb.jp
Zellweger Syndrome Zellweger症候群 MeSH lifesciencedb.jp
Toxoplasmosis, Congenital トキソプラズマ症-先天性 MeSH lifesciencedb.jp
Bone Diseases 骨疾患 MeSH lifesciencedb.jp
Spinal Stenosis 脊柱管狭窄 MeSH lifesciencedb.jp
Calcinosis 石灰沈着症 MeSH lifesciencedb.jp
Nose Deformities, Acquired 鼻形態異常-後天性 MeSH lifesciencedb.jp
Malocclusion 不正咬合 MeSH lifesciencedb.jp
Skin Diseases 皮膚疾患 MeSH lifesciencedb.jp
Pregnancy Complications, Cardiovascular 妊娠合併症-心臓血管系 MeSH lifesciencedb.jp
Eye Manifestations 眼症状 MeSH lifesciencedb.jp
Dwarfism 低身長症 MeSH lifesciencedb.jp
Kyphosis 脊柱後彎症 MeSH lifesciencedb.jp
Abnormalities, Drug-Induced 奇形-薬物性 MeSH lifesciencedb.jp
Thrombophlebitis 静脈炎-血栓性 MeSH lifesciencedb.jp
Optic Atrophy 視神経萎縮 MeSH lifesciencedb.jp
Scoliosis 脊柱側彎症 MeSH lifesciencedb.jp
Pneumonia 肺炎 MeSH lifesciencedb.jp
Arteriosclerosis 動脈硬化症 MeSH lifesciencedb.jp
Ichthyosis 魚鱗癬 MeSH lifesciencedb.jp
Alopecia 脱毛症 MeSH lifesciencedb.jp
Limb Deformities, Congenital 四肢奇形-先天性 MeSH lifesciencedb.jp
Congenital Abnormalities 奇形 MeSH lifesciencedb.jp
Liver Diseases 肝臓疾患 MeSH lifesciencedb.jp
Polycystic Kidney Diseases 腎嚢胞-多発性 MeSH lifesciencedb.jp
Adrenoleukodystrophy 副腎白質ジストロフィー MeSH lifesciencedb.jp
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp
Chromosome Disorders 染色体疾患 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 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
Receptors, Cytoplasmic and Nuclear 細胞質受容体と核受容体 MeSH lifesciencedb.jp
Phytanic Acid フィタン酸 MeSH lifesciencedb.jp
Acyltransferases アシルトランスフェラーゼ MeSH lifesciencedb.jp
Plasmalogens プラスマローゲン MeSH lifesciencedb.jp
Acetyl-CoA C-Acyltransferase 3-ケトチオラーゼ MeSH lifesciencedb.jp
Recombinant Fusion Proteins 組換え融合蛋白質 MeSH lifesciencedb.jp
Phytol フィトール MeSH lifesciencedb.jp
DNA, Complementary 相補的DNA MeSH lifesciencedb.jp
Factor X 血液凝固第X因子 MeSH lifesciencedb.jp
Coumarins クマリン MeSH lifesciencedb.jp
Acetyl-CoA C-Acetyltransferase アセトアセチルCoA-チオラーゼ MeSH lifesciencedb.jp
Factor IX 血液凝固第IX因子 MeSH lifesciencedb.jp
Factor VII 血液凝固第VII因子 MeSH lifesciencedb.jp
Teratogens 催奇形物質 MeSH lifesciencedb.jp
Vitamin K ビタミンK MeSH lifesciencedb.jp
Arylsulfatases アリールスルファターゼ MeSH lifesciencedb.jp
Warfarin ワルファリン MeSH lifesciencedb.jp
Epoxy Compounds エポキシ化合物 MeSH lifesciencedb.jp
Alkyl and Aryl Transferases アリールトランスフェラーゼ MeSH lifesciencedb.jp
Transferases 転移酵素 MeSH lifesciencedb.jp
Glutamates グルタミン酸塩 MeSH lifesciencedb.jp
Isoleucine イソロイシン MeSH lifesciencedb.jp
Membrane Proteins 膜蛋白質 MeSH lifesciencedb.jp
Prothrombin 血液凝固第II因子 MeSH lifesciencedb.jp
Luciferases ルシフェラーゼ MeSH lifesciencedb.jp
Catalase カタラーゼ MeSH lifesciencedb.jp
Recombinant Proteins 組換え蛋白質 MeSH lifesciencedb.jp
Tryptophan トリプトファン MeSH lifesciencedb.jp
Protein Isoforms アイソフォーム MeSH lifesciencedb.jp
Blood Proteins 血液蛋白質 MeSH lifesciencedb.jp
Fatty Acids 脂肪酸 MeSH lifesciencedb.jp
Codon コドン MeSH lifesciencedb.jp
Peptides ペプチド MeSH lifesciencedb.jp
Peptide Fragments ペプチド断片 MeSH lifesciencedb.jp
Glycoproteins 糖蛋白質 MeSH lifesciencedb.jp
Antibodies 抗体 MeSH lifesciencedb.jp
Nuclear Proteins 核内蛋白質 MeSH lifesciencedb.jp
DNA-Binding Proteins DNA結合タンパク MeSH lifesciencedb.jp
Proteins 蛋白質 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
Protein Structure, Secondary 蛋白質二次構造 MeSH lifesciencedb.jp
Calcification, Physiologic 生理的石灰沈着 MeSH lifesciencedb.jp
Sequence Homology, Amino Acid アミノ酸配列相同性 MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Amino Acid Motifs アミノ酸モチーフ MeSH lifesciencedb.jp
Protein Folding 蛋白質折畳み MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Protein Structure, Tertiary 蛋白質三次構造 MeSH lifesciencedb.jp
Oxidation-Reduction 酸化-還元 MeSH lifesciencedb.jp
Repetitive Sequences, Amino Acid アミノ酸反復配列 MeSH lifesciencedb.jp
src Homology Domains src相同ドメイン MeSH lifesciencedb.jp
Body Height 身長 MeSH lifesciencedb.jp
Gene Expression 遺伝子発現 MeSH lifesciencedb.jp
Cell Compartmentation 細胞内区画化 MeSH lifesciencedb.jp
Heredity 遺伝 MeSH lifesciencedb.jp
Osteogenesis 骨形成 MeSH lifesciencedb.jp
Maternal-Fetal Exchange 母体胎児間物質交換 MeSH lifesciencedb.jp
Cell Fusion 細胞融合 MeSH lifesciencedb.jp
Cephalometry 頭部計測法 MeSH lifesciencedb.jp
Genes, Reporter レポーター遺伝子 MeSH lifesciencedb.jp
Protein Transport 蛋白質輸送 MeSH lifesciencedb.jp
Open Reading Frames オープンリーディングフレーム MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Protein Processing, Post-Translational 翻訳後蛋白質プロセシング MeSH lifesciencedb.jp
Temperature 温度 MeSH lifesciencedb.jp
Structure-Activity Relationship 構造活性相関 MeSH lifesciencedb.jp
Anthropometry 身体計測 MeSH lifesciencedb.jp
Lipid Metabolism Lipid Metabolism MeSH lifesciencedb.jp
Chromosomes, Human, X ヒトX染色体 MeSH lifesciencedb.jp
Diet 食事 MeSH lifesciencedb.jp
Organ Specificity 臓器特異性 MeSH lifesciencedb.jp
Cell Movement 細胞運動 MeSH lifesciencedb.jp
Protein Biosynthesis 蛋白質生合成 MeSH lifesciencedb.jp
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Homozygote ホモ接合体 MeSH lifesciencedb.jp
Protein Conformation 蛋白質高次構造 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 6 ヒト第6染色体 MeSH lifesciencedb.jp
Alternative Splicing 選択的スプライシング MeSH lifesciencedb.jp
Codon コドン MeSH lifesciencedb.jp
Genetics, Medical 医科遺伝学 MeSH lifesciencedb.jp
X Chromosome X染色体 MeSH lifesciencedb.jp
Frameshift Mutation フレームシフト変異 MeSH lifesciencedb.jp
Amino Acid Substitution アミノ酸置換 MeSH lifesciencedb.jp
Genes, Dominant 優性遺伝子 MeSH lifesciencedb.jp
Genes 遺伝子 MeSH lifesciencedb.jp
Polymorphism, Single-Stranded Conformational PCR-SSCP法 MeSH lifesciencedb.jp
Alleles 対立遺伝子 MeSH lifesciencedb.jp
Consanguinity 血族 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Point Mutation 点変異 MeSH lifesciencedb.jp
Gene Frequency 遺伝子頻度 MeSH lifesciencedb.jp
Exons エクソン MeSH lifesciencedb.jp
Immunohistochemistry 免疫組織化学 MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Pregnancy 妊娠 MeSH lifesciencedb.jp
Follow-Up Studies 追跡研究 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp


Anatomy

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 MeSH term Japanese Link 01
Fibroblasts 線維芽細胞 MeSH lifesciencedb.jp
Microbodies 微小体 MeSH lifesciencedb.jp
Peroxisomes ペルオキシソーム MeSH lifesciencedb.jp
Epiphyses 骨端 MeSH lifesciencedb.jp
Spinal Canal 脊柱管 MeSH lifesciencedb.jp
Cells, Cultured 培養細胞 MeSH lifesciencedb.jp
Cartilage 軟骨 MeSH lifesciencedb.jp
Bone and Bones 骨 MeSH lifesciencedb.jp
COS Cells COS細胞 MeSH lifesciencedb.jp
Metacarpus 中手骨 MeSH lifesciencedb.jp
Humerus 上腕骨 MeSH lifesciencedb.jp
Osteoblasts 骨芽細胞 MeSH lifesciencedb.jp
Liver 肝臓 MeSH lifesciencedb.jp
Cerebral Ventricles 脳室 MeSH lifesciencedb.jp
Cytosol サイトゾル MeSH lifesciencedb.jp
Osteoclasts 破骨細胞 MeSH lifesciencedb.jp
Cervical Vertebrae 頸椎 MeSH lifesciencedb.jp
Nose 鼻 MeSH lifesciencedb.jp
Femur 大腿骨 MeSH lifesciencedb.jp
Chromosomes, Human, X ヒトX染色体 MeSH lifesciencedb.jp
Leg 下腿 MeSH lifesciencedb.jp
Spine 脊柱 MeSH lifesciencedb.jp
Cell Line 細胞系 MeSH lifesciencedb.jp
Hair 毛 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 6 ヒト第6染色体 MeSH lifesciencedb.jp
Cerebellum 小脳 MeSH lifesciencedb.jp
Mitochondria ミトコンドリア MeSH lifesciencedb.jp
Skin 皮膚 MeSH lifesciencedb.jp
X Chromosome X染色体 MeSH lifesciencedb.jp
Erythrocytes 赤血球 MeSH lifesciencedb.jp
Blood Platelets 血小板 MeSH lifesciencedb.jp
Neurons ニューロン MeSH lifesciencedb.jp
Brain 脳 MeSH lifesciencedb.jp


Organisms

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 MeSH term Japanese Link 01
Animals 動物 MeSH lifesciencedb.jp
Animals, Newborn 新生仔 MeSH lifesciencedb.jp
Cricetinae ハムスター類 MeSH lifesciencedb.jp
Mice, Knockout ノックアウトマウス MeSH lifesciencedb.jp
Rats ラット MeSH lifesciencedb.jp
Mice マウス MeSH lifesciencedb.jp
Humans ヒト MeSH lifesciencedb.jp


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