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01 122470 CDLS1 CORNELIA DE LANGE SYNDROME 1 コルネリアデランゲ症候群 OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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 MeSH term Japanese Link 01
De Lange Syndrome De Lange症候群 MeSH lifesciencedb.jp
Limb Deformities, Congenital 四肢奇形-先天性 MeSH lifesciencedb.jp
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp
Growth Disorders 成長障害 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Gastroesophageal Reflux 胃食道逆流 MeSH lifesciencedb.jp
Chromosome Disorders 染色体疾患 MeSH lifesciencedb.jp
Digestive System Abnormalities 消化器系奇形 MeSH lifesciencedb.jp
Self Mutilation 自傷 MeSH lifesciencedb.jp
Hernia, Diaphragmatic 横隔膜ヘルニア MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp
Diseases in Twins 双生児の疾患 MeSH lifesciencedb.jp
Microcephaly 小頭症 MeSH lifesciencedb.jp
Ectromelia 欠肢症 MeSH lifesciencedb.jp
Refractive Errors 屈折異常 MeSH lifesciencedb.jp
Hirsutism 多毛症-男性型 MeSH lifesciencedb.jp
Translocation, Genetic 転座 MeSH lifesciencedb.jp
Fetal Growth Retardation 胎児成長遅滞 MeSH lifesciencedb.jp
Trisomy トリソミー MeSH lifesciencedb.jp
Hand Deformities, Congenital 手の形態異常-先天性 MeSH lifesciencedb.jp
Failure to Thrive 成長不全 MeSH lifesciencedb.jp
Congenital Abnormalities 奇形 MeSH lifesciencedb.jp
Esophagitis 食道炎 MeSH lifesciencedb.jp
Chromosome Inversion 染色体逆位 MeSH lifesciencedb.jp
Birth Weight 出生体重 MeSH lifesciencedb.jp
Hernia, Hiatal 食道裂孔ヘルニア MeSH lifesciencedb.jp
Oral Manifestations 口腔症状 MeSH lifesciencedb.jp
Body Weight 体重 MeSH lifesciencedb.jp
Torticollis 斜頸 MeSH lifesciencedb.jp
Hyperopia 遠視 MeSH lifesciencedb.jp
Fetal Death 胎児死亡 MeSH lifesciencedb.jp
Facial Asymmetry 顔面非対称 MeSH lifesciencedb.jp
Ring Chromosomes 環状染色体 MeSH lifesciencedb.jp
Spasm 筋けいれん MeSH lifesciencedb.jp
Chromosomal Instability 染色体不安定性 MeSH lifesciencedb.jp
Heart Defects, Congenital 心臓疾患-先天性 MeSH lifesciencedb.jp
Musculoskeletal Diseases 筋骨格系疾患 MeSH lifesciencedb.jp
Polyhydramnios 羊水過多症 MeSH lifesciencedb.jp
Mouth Abnormalities 口腔奇形 MeSH lifesciencedb.jp
Hand Deformities, Acquired 手の形態異常-後天性 MeSH lifesciencedb.jp
Hypopituitarism 下垂体機能低下症 MeSH lifesciencedb.jp
Kidney Diseases, Cystic 腎嚢胞 MeSH lifesciencedb.jp
Nystagmus, Pathologic 眼振 MeSH lifesciencedb.jp
Urogenital Abnormalities 泌尿生殖器奇形 MeSH lifesciencedb.jp
Spinal Cord Diseases 脊髄疾患 MeSH lifesciencedb.jp
Endocrine System Diseases 内分泌系疾患 MeSH lifesciencedb.jp
Genetic Diseases, X-Linked 遺伝性疾患-X連鎖性 MeSH lifesciencedb.jp
Chromosome Fragility 染色体脆弱性 MeSH lifesciencedb.jp
Myopia 近視 MeSH lifesciencedb.jp
Speech Disorders 発話障害 MeSH lifesciencedb.jp
Fever 発熱 MeSH lifesciencedb.jp
Aneuploidy 異数性 MeSH lifesciencedb.jp
Scoliosis 脊柱側彎症 MeSH lifesciencedb.jp
Abortion, Spontaneous 流産 MeSH lifesciencedb.jp
Thrombocytopenia 血小板減少症 MeSH lifesciencedb.jp
Psychomotor Disorders 精神運動障害 MeSH lifesciencedb.jp
Blepharoptosis 眼瞼下垂 MeSH lifesciencedb.jp
Skin Abnormalities 皮膚先天異常 MeSH lifesciencedb.jp
Gastrointestinal Diseases 胃腸疾患 MeSH lifesciencedb.jp
Hypertrophy 肥大 MeSH lifesciencedb.jp
Wilms Tumor 腎芽細胞腫 MeSH lifesciencedb.jp
Vision Disorders 視覚障害 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Foot Deformities, Congenital 足の形態異常-先天性 MeSH lifesciencedb.jp
Fetal Diseases 胎児疾患 MeSH lifesciencedb.jp
Eye Diseases 眼疾患 MeSH lifesciencedb.jp
Pigmentation Disorders 色素異常症 MeSH lifesciencedb.jp
Bone Diseases, Developmental 骨発育異常 MeSH lifesciencedb.jp
Eye Abnormalities 眼奇形 MeSH lifesciencedb.jp
Seizures けいれん性発作 MeSH lifesciencedb.jp
Kidney Neoplasms 腎臓腫瘍 MeSH lifesciencedb.jp
Cataract 白内障 MeSH lifesciencedb.jp
Dwarfism 低身長症 MeSH lifesciencedb.jp
Muscular Diseases 筋疾患 MeSH lifesciencedb.jp
Pregnancy Complications 妊娠合併症 MeSH lifesciencedb.jp
Kidney Diseases 腎臓疾患 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp


Chemicals

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 MeSH term Japanese Link 01
Cell Cycle Proteins 細胞周期蛋白質 MeSH lifesciencedb.jp
Proteins 蛋白質 MeSH lifesciencedb.jp
Drosophila Proteins ショウジョウバエ蛋白質 MeSH lifesciencedb.jp
Estriol エストリオール MeSH lifesciencedb.jp
Chromosomal Proteins, Non-Histone 染色体蛋白質-非ヒストン性 MeSH lifesciencedb.jp
Saccharomyces cerevisiae Proteins サッカロミセスセレビシエ蛋白質 MeSH lifesciencedb.jp
Placental Lactogen 胎盤ラクトーゲン MeSH lifesciencedb.jp
Pregnancy-Specific beta 1-Glycoproteins 妊娠関連ベータ血漿蛋白質 MeSH lifesciencedb.jp
Pregnancy-Associated Plasma Protein-A 妊娠関連血漿蛋白質-A MeSH lifesciencedb.jp
Intercellular Signaling Peptides and Proteins 細胞間シグナルペプチドと蛋白質 MeSH lifesciencedb.jp
Azure Stains Azure染色液 MeSH lifesciencedb.jp
Goosecoid Protein Goosecoid遺伝子産物 MeSH lifesciencedb.jp
Nitroglycerin トリニトログリセリン MeSH lifesciencedb.jp
Growth Hormone 成長ホルモン MeSH lifesciencedb.jp
Pregnancy Proteins 妊娠蛋白質 MeSH lifesciencedb.jp
Caenorhabditis elegans Proteins Cエレガンス蛋白質 MeSH lifesciencedb.jp
DNA-Binding Proteins DNA結合タンパク MeSH lifesciencedb.jp
17-Ketosteroids 17-オキソステロイド MeSH lifesciencedb.jp
5' Untranslated Regions 5'非翻訳領域 MeSH lifesciencedb.jp
alpha-Fetoproteins アルファ-フェトプロテイン MeSH lifesciencedb.jp
Chorionic Gonadotropin 絨毛性性腺刺激ホルモン MeSH lifesciencedb.jp
Urea 尿素 MeSH lifesciencedb.jp
Carbon Dioxide 二酸化炭素 MeSH lifesciencedb.jp
Hormones ホルモン MeSH lifesciencedb.jp
Gonadotropin-Releasing Hormone 黄体形成ホルモン放出ホルモン MeSH lifesciencedb.jp
Insulin-Like Growth Factor I インスリン様成長因子I MeSH lifesciencedb.jp
Potassium カリウム MeSH lifesciencedb.jp
Adrenocorticotropic Hormone アドレノコルチコトロピン MeSH lifesciencedb.jp
Sodium ナトリウム MeSH lifesciencedb.jp
Homeodomain Proteins ホメオドメイン蛋白質 MeSH lifesciencedb.jp
Chlorides 塩化物 MeSH lifesciencedb.jp
Repressor Proteins レプレッサー蛋白質 MeSH lifesciencedb.jp
DNA, Mitochondrial ミトコンドリアDNA MeSH lifesciencedb.jp
Adrenal Cortex Hormones 副腎皮質ホルモン MeSH lifesciencedb.jp
Glycoproteins 糖蛋白質 MeSH lifesciencedb.jp
DNA, Complementary 相補的DNA MeSH lifesciencedb.jp
DNA デオキシリボ核酸 MeSH lifesciencedb.jp
Transcription Factors 転写因子 MeSH lifesciencedb.jp


Biological Phenomena

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 MeSH term Japanese Link 01
Phenotype 表現型 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Chromosomes, Human, 1-3 ヒト第1-3染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 3 ヒト第3染色体 MeSH lifesciencedb.jp
Genes, Dominant 優性遺伝子 MeSH lifesciencedb.jp
Translocation, Genetic 転座 MeSH lifesciencedb.jp
Chromosomes, Human, 13-15 ヒト第13-15染色体 MeSH lifesciencedb.jp
Pregnancy 妊娠 MeSH lifesciencedb.jp
Chromosome Segregation 染色体分離 MeSH lifesciencedb.jp
Trisomy トリソミー MeSH lifesciencedb.jp
Fatal Outcome 致死的転帰 MeSH lifesciencedb.jp
Metaphase 細胞分裂中期 MeSH lifesciencedb.jp
Pregnancy Trimester, Second 妊娠中期 MeSH lifesciencedb.jp
Medical Illustration 医学用イラストレーション MeSH lifesciencedb.jp
Chromosome Inversion 染色体逆位 MeSH lifesciencedb.jp
Birth Weight 出生体重 MeSH lifesciencedb.jp
Mosaicism モザイク現象 MeSH lifesciencedb.jp
Twins, Monozygotic 一卵性双生児 MeSH lifesciencedb.jp
Genes, Insect 昆虫遺伝子 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Body Weight 体重 MeSH lifesciencedb.jp
Growth 成長 MeSH lifesciencedb.jp
Body Height 身長 MeSH lifesciencedb.jp
Psychomotor Performance 精神運動能力 MeSH lifesciencedb.jp
Ring Chromosomes 環状染色体 MeSH lifesciencedb.jp
Chromosomal Instability 染色体不安定性 MeSH lifesciencedb.jp
Body Constitution 体質 MeSH lifesciencedb.jp
Chromatids 染色分体 MeSH lifesciencedb.jp
Pediatrics 小児科学 MeSH lifesciencedb.jp
Chromosomes, Human, 4-5 ヒト第4-5染色体 MeSH lifesciencedb.jp
Chromosomes, Artificial, Bacterial 細菌人工染色体 MeSH lifesciencedb.jp
Discriminant Analysis 判別分析 MeSH lifesciencedb.jp
Arousal 覚醒 MeSH lifesciencedb.jp
5' Untranslated Regions 5'非翻訳領域 MeSH lifesciencedb.jp
RNA Interference RNA干渉 MeSH lifesciencedb.jp
Chromosome Fragile Sites 染色体不安定部 MeSH lifesciencedb.jp
Species Specificity 種特異性 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 5 ヒト第5染色体 MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Chromosomes, Human, 21-22 and Y ヒト第21-22およびY染色体 MeSH lifesciencedb.jp
Embryonic and Fetal Development 胚と胎児の成長 MeSH lifesciencedb.jp
Visual Acuity 視力 MeSH lifesciencedb.jp
Posture 姿勢 MeSH lifesciencedb.jp
Chromosome Fragility 染色体脆弱性 MeSH lifesciencedb.jp
Mitosis 有糸分裂 MeSH lifesciencedb.jp
Cosmids コスミド MeSH lifesciencedb.jp
Twins 双生児 MeSH lifesciencedb.jp
Aneuploidy 異数性 MeSH lifesciencedb.jp
Nucleic Acid Hybridization 核酸ハイブリダイゼーション MeSH lifesciencedb.jp
Pathology 病理学 MeSH lifesciencedb.jp
Chromosomes, Human ヒト染色体 MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Nutritional Status 栄養状態 MeSH lifesciencedb.jp
Anthropometry 身体計測 MeSH lifesciencedb.jp
Cause of Death 死因 MeSH lifesciencedb.jp
Gestational Age 在胎月齢 MeSH lifesciencedb.jp
Chromosomes 染色体 MeSH lifesciencedb.jp
Cell Cycle 細胞周期 MeSH lifesciencedb.jp
Gene Expression Regulation, Developmental 発生遺伝子発現調節 MeSH lifesciencedb.jp
Conserved Sequence 保存配列 MeSH lifesciencedb.jp
Chromosomes, Human, 6-12 and X ヒト第6-12およびX染色体 MeSH lifesciencedb.jp
Cell Movement 細胞運動 MeSH lifesciencedb.jp
Statistics as Topic Statistics as Topic MeSH lifesciencedb.jp
Chromosomes, Human, Pair 12 ヒト第12染色体 MeSH lifesciencedb.jp
Age Factors 年齢因子 MeSH lifesciencedb.jp
Histocytochemistry 組織化学 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Genome, Human ヒトゲノム MeSH lifesciencedb.jp
Chromosomes, Human, Pair 9 ヒト第9染色体 MeSH lifesciencedb.jp
Genomic Imprinting 遺伝子刷り込み MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 22 ヒト第22染色体 MeSH lifesciencedb.jp
Alternative Splicing 選択的スプライシング MeSH lifesciencedb.jp
Genetics, Medical 医科遺伝学 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 17 ヒト第17染色体 MeSH lifesciencedb.jp
Exons エクソン MeSH lifesciencedb.jp
Haplotypes ハプロタイプ MeSH lifesciencedb.jp
Aging 加齢 MeSH lifesciencedb.jp
Introns イントロン MeSH lifesciencedb.jp
Consanguinity 血族 MeSH lifesciencedb.jp
Questionnaires アンケート MeSH lifesciencedb.jp
Prevalence 有病率 MeSH lifesciencedb.jp
Follow-Up Studies 追跡研究 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Cohort Studies コホート研究 MeSH lifesciencedb.jp
Lod Score ロッドスコア MeSH lifesciencedb.jp
Genetic Variation 遺伝的多様性 MeSH lifesciencedb.jp
Sequence Deletion 配列欠失 MeSH lifesciencedb.jp
Sequence Homology, Amino Acid アミノ酸配列相同性 MeSH lifesciencedb.jp
Microsatellite Repeats マイクロサテライトリピート MeSH lifesciencedb.jp


Anatomy

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 MeSH term Japanese Link 01
Face 顔面 MeSH lifesciencedb.jp
Chromosomes, Human, 1-3 ヒト第1-3染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 3 ヒト第3染色体 MeSH lifesciencedb.jp
Head 頭部 MeSH lifesciencedb.jp
Chromosomes, Human, 13-15 ヒト第13-15染色体 MeSH lifesciencedb.jp
Metacarpus 中手骨 MeSH lifesciencedb.jp
Digestive System 消化器系 MeSH lifesciencedb.jp
Fetus 胎児 MeSH lifesciencedb.jp
Esophagogastric Junction 食道胃接合部 MeSH lifesciencedb.jp
Extrapyramidal Tracts 錐体外路 MeSH lifesciencedb.jp
Arm 上腕 MeSH lifesciencedb.jp
Subclavian Artery 鎖骨下動脈 MeSH lifesciencedb.jp
Metatarsus 中足 MeSH lifesciencedb.jp
Eyebrows 眉 MeSH lifesciencedb.jp
Ring Chromosomes 環状染色体 MeSH lifesciencedb.jp
Facial Bones 顔面骨 MeSH lifesciencedb.jp
Chromatids 染色分体 MeSH lifesciencedb.jp
Chromosomes, Human, 4-5 ヒト第4-5染色体 MeSH lifesciencedb.jp
Chromosomes, Artificial, Bacterial 細菌人工染色体 MeSH lifesciencedb.jp
Wrist 手首 MeSH lifesciencedb.jp
Abdomen 腹部 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 5 ヒト第5染色体 MeSH lifesciencedb.jp
Lip 口唇 MeSH lifesciencedb.jp
Chromosomes, Human, 21-22 and Y ヒト第21-22およびY染色体 MeSH lifesciencedb.jp
Ulna 尺骨 MeSH lifesciencedb.jp
Ribs 肋骨 MeSH lifesciencedb.jp
Placenta 胎盤 MeSH lifesciencedb.jp
Pituitary Gland 下垂体 MeSH lifesciencedb.jp
Urine 尿 MeSH lifesciencedb.jp
Tibia 脛骨 MeSH lifesciencedb.jp
Brain 脳 MeSH lifesciencedb.jp
Ear, External 外耳 MeSH lifesciencedb.jp
Extremities 四肢 MeSH lifesciencedb.jp
Hypothalamo-Hypophyseal System 視床下部-下垂体系 MeSH lifesciencedb.jp
Fingers 手指 MeSH lifesciencedb.jp
Chromosomes, Human ヒト染色体 MeSH lifesciencedb.jp
Adrenal Glands 副腎 MeSH lifesciencedb.jp
Femur 大腿骨 MeSH lifesciencedb.jp
Axons 軸索 MeSH lifesciencedb.jp
Thyroid Gland 甲状腺 MeSH lifesciencedb.jp
Chromosomes 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
Bone and Bones 骨 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 12 ヒト第12染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 9 ヒト第9染色体 MeSH lifesciencedb.jp
HeLa Cells Hela細胞 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 22 ヒト第22染色体 MeSH lifesciencedb.jp
Skull 頭蓋骨 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 17 ヒト第17染色体 MeSH lifesciencedb.jp
Cell Line 細胞系 MeSH lifesciencedb.jp
Muscle, Skeletal 骨格筋 MeSH lifesciencedb.jp
Kidney 腎臓 MeSH lifesciencedb.jp


Organisms

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 MeSH term Japanese Link 01
Animals 動物 MeSH lifesciencedb.jp
Mice マウス MeSH lifesciencedb.jp
Humans ヒト MeSH lifesciencedb.jp
Caenorhabditis elegans C.エレガンス MeSH lifesciencedb.jp
Drosophila melanogaster キイロショウジョウバエ MeSH lifesciencedb.jp
Xenopus ツメガエル属 MeSH lifesciencedb.jp
Drosophila ショウジョウバエ属 MeSH lifesciencedb.jp
Saccharomyces cerevisiae 酵母-パン MeSH lifesciencedb.jp


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