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01 145410 - HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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MeSH term Japanese Link 01
Hypospadias 尿道下裂 MeSH lifesciencedb.jp
Hypertelorism 隔離症 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp
Deglutition Disorders 嚥下障害 MeSH lifesciencedb.jp
Craniofacial Dysostosis 頭蓋顔面異骨症 MeSH lifesciencedb.jp
Bone Diseases, Developmental 骨発育異常 MeSH lifesciencedb.jp
Smith-Lemli-Opitz Syndrome Smith-Lemli-Opitz症候群 MeSH lifesciencedb.jp
Anus, Imperforate 鎖肛 MeSH lifesciencedb.jp
Respiratory Tract Diseases 気道疾患 MeSH lifesciencedb.jp
Hyaline Membrane Disease ヒアリン膜症 MeSH lifesciencedb.jp
Mouth Abnormalities 口腔奇形 MeSH lifesciencedb.jp
Chromosome Disorders 染色体疾患 MeSH lifesciencedb.jp
Cleft Lip 口唇裂 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Laryngeal Diseases 喉頭疾患 MeSH lifesciencedb.jp
Respiratory Sounds 呼吸音 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Cleft Palate 口蓋裂 MeSH lifesciencedb.jp
Respiratory Distress Syndrome, Newborn 呼吸窮迫症候群-新生児 MeSH lifesciencedb.jp
Hernia, Hiatal 食道裂孔ヘルニア MeSH lifesciencedb.jp
Hernia, Umbilical 臍帯ヘルニア MeSH lifesciencedb.jp
Tracheoesophageal Fistula 気管食道瘻 MeSH lifesciencedb.jp
Acidosis アシドーシス MeSH lifesciencedb.jp
Ring Chromosomes 環状染色体 MeSH lifesciencedb.jp
DiGeorge Syndrome DiGeorge症候群 MeSH lifesciencedb.jp
Death, Sudden 突然死 MeSH lifesciencedb.jp
Corneal Diseases 角膜疾患 MeSH lifesciencedb.jp
Genetic Diseases, X-Linked 遺伝性疾患-X連鎖性 MeSH lifesciencedb.jp
Acute Disease 急性疾患 MeSH lifesciencedb.jp
Urogenital Abnormalities 泌尿生殖器奇形 MeSH lifesciencedb.jp
Dystonia ジストニア MeSH lifesciencedb.jp
Cryptorchidism 停留精巣 MeSH lifesciencedb.jp
Gastroesophageal Reflux 胃食道逆流 MeSH lifesciencedb.jp
Coloboma 眼組織欠損症 MeSH lifesciencedb.jp
Chromosome Inversion 染色体逆位 MeSH lifesciencedb.jp
Intestinal Obstruction 腸閉塞 MeSH lifesciencedb.jp
Micrognathism 小顎症 MeSH lifesciencedb.jp
Diseases in Twins 双生児の疾患 MeSH lifesciencedb.jp
Trisomy トリソミー MeSH lifesciencedb.jp
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp
Hernia, Diaphragmatic 横隔膜ヘルニア MeSH lifesciencedb.jp
Facies 顔貌 MeSH lifesciencedb.jp
Fetal Death 胎児死亡 MeSH lifesciencedb.jp
Syndactyly 合指症 MeSH lifesciencedb.jp
Dandy-Walker Syndrome Dandy-Walker症候群 MeSH lifesciencedb.jp
Craniofacial Abnormalities 頭蓋顔面奇形 MeSH lifesciencedb.jp
Heart Defects, Congenital 心臓疾患-先天性 MeSH lifesciencedb.jp



Chemicals

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MeSH term Japanese Link 01
Microtubule Proteins 微小管蛋白質 MeSH lifesciencedb.jp
Nuclear Proteins 核内蛋白質 MeSH lifesciencedb.jp
Carbonates 炭酸塩 MeSH lifesciencedb.jp
Polyubiquitin ポリユビキチン MeSH lifesciencedb.jp
Protein Phosphatase 2 - MeSH lifesciencedb.jp
Phosphoprotein Phosphatases プロテインホスファターゼ MeSH lifesciencedb.jp
Microtubule-Associated Proteins 微小管結合蛋白質 MeSH lifesciencedb.jp
Ubiquitin ユビキチン MeSH lifesciencedb.jp
Antigen-Antibody Complex 免疫複合体 MeSH lifesciencedb.jp
Transcription Factors 転写因子 MeSH lifesciencedb.jp
Ligases 合成酵素 MeSH lifesciencedb.jp
Protein Subunits 蛋白質サブユニット MeSH lifesciencedb.jp
Cell Cycle Proteins 細胞周期蛋白質 MeSH lifesciencedb.jp
Ubiquitin-Protein Ligases ユビキチン蛋白質リガーゼ MeSH lifesciencedb.jp
Sodium ナトリウム MeSH lifesciencedb.jp
Proteins 蛋白質 MeSH lifesciencedb.jp
RNA, Messenger メッセンジャーRNA MeSH lifesciencedb.jp



Biological Phenomena

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MeSH term Japanese Link 01
Chromosomes, Human, Pair 22 ヒト第22染色体 MeSH lifesciencedb.jp
Genes, Dominant 優性遺伝子 MeSH lifesciencedb.jp
X Chromosome X染色体 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Respiratory Sounds 呼吸音 MeSH lifesciencedb.jp
Chromosomes, Human, 21-22 and Y ヒト第21-22およびY染色体 MeSH lifesciencedb.jp
Substrate Specificity 基質特異性 MeSH lifesciencedb.jp
Gene Deletion 遺伝子欠失 MeSH lifesciencedb.jp
Ring Chromosomes 環状染色体 MeSH lifesciencedb.jp
Peristalsis 蠕動 MeSH lifesciencedb.jp
Pregnancy Trimester, Second 妊娠中期 MeSH lifesciencedb.jp
Phosphorylation リン酸化 MeSH lifesciencedb.jp
Protein Binding 蛋白質結合 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Binding Sites 結合部位 MeSH lifesciencedb.jp
Up-Regulation アップレギュレーション MeSH lifesciencedb.jp
Chromosome Inversion 染色体逆位 MeSH lifesciencedb.jp
Trisomy トリソミー MeSH lifesciencedb.jp
Lod Score ロッドスコア MeSH lifesciencedb.jp
Chromosomes 染色体 MeSH lifesciencedb.jp
Twins 双生児 MeSH lifesciencedb.jp
Chromosomes, Human ヒト染色体 MeSH lifesciencedb.jp
Genetic Counseling 遺伝相談 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 13 ヒト第13染色体 MeSH lifesciencedb.jp
Sex Chromosomes 性染色体 MeSH lifesciencedb.jp
Gene Expression 遺伝子発現 MeSH lifesciencedb.jp
Twins, Monozygotic 一卵性双生児 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 5 ヒト第5染色体 MeSH lifesciencedb.jp
Pregnancy 妊娠 MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Genetic Heterogeneity 遺伝的異質性 MeSH lifesciencedb.jp
Heterozygote ヘテロ接合体 MeSH lifesciencedb.jp
Sex Factors 性因子(疫学) MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Age of Onset 発病年齢 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp



Anatomy

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MeSH term Japanese Link 01
Larynx 喉頭 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 22 ヒト第22染色体 MeSH lifesciencedb.jp
Trachea 気管 MeSH lifesciencedb.jp
Esophagus 食道 MeSH lifesciencedb.jp
X Chromosome X染色体 MeSH lifesciencedb.jp
Lingual Frenum 舌小帯 MeSH lifesciencedb.jp
Gallbladder 胆嚢 MeSH lifesciencedb.jp
Chromosomes, Human, 21-22 and Y ヒト第21-22およびY染色体 MeSH lifesciencedb.jp
Microtubules 微小管 MeSH lifesciencedb.jp
Rhombencephalon 菱脳 MeSH lifesciencedb.jp
Bronchi 気管支 MeSH lifesciencedb.jp
Ring Chromosomes 環状染色体 MeSH lifesciencedb.jp
Nose MeSH lifesciencedb.jp
Genitalia, Female 女性生殖器 MeSH lifesciencedb.jp
COS Cells COS細胞 MeSH lifesciencedb.jp
Duodenum 十二指腸 MeSH lifesciencedb.jp
Heart 心臓 MeSH lifesciencedb.jp
Genitalia 生殖器 MeSH lifesciencedb.jp
Embryo, Mammalian Embryo, Mammalian MeSH lifesciencedb.jp
Testis 精巣 MeSH lifesciencedb.jp
Myocardium 心筋 MeSH lifesciencedb.jp
Central Nervous System 中枢神経系 MeSH lifesciencedb.jp
Ear MeSH lifesciencedb.jp
Eyelids 眼瞼 MeSH lifesciencedb.jp
Iris 虹彩 MeSH lifesciencedb.jp
Chromosomes 染色体 MeSH lifesciencedb.jp
Chromosomes, Human ヒト染色体 MeSH lifesciencedb.jp
Face 顔面 MeSH lifesciencedb.jp
Corpus Callosum 脳梁 MeSH lifesciencedb.jp
Scalp 頭皮 MeSH lifesciencedb.jp
Ear, External 外耳 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 13 ヒト第13染色体 MeSH lifesciencedb.jp
Sex Chromosomes 性染色体 MeSH lifesciencedb.jp
Facial Bones 顔面骨 MeSH lifesciencedb.jp
Lung MeSH lifesciencedb.jp
Chromosomes, Human, Pair 5 ヒト第5染色体 MeSH lifesciencedb.jp
Fibroblasts 線維芽細胞 MeSH lifesciencedb.jp
Brain MeSH lifesciencedb.jp



Organisms

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



Database Center for Life Science