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01 214800 - CHARGE SYNDROME ＣＨＡＲＧＥ症候群 OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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 MeSH term Japanese Link 01
Coloboma 眼組織欠損症 MeSH lifesciencedb.jp
Choanal Atresia 後鼻孔閉鎖症 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp
Heart Defects, Congenital 心臓疾患-先天性 MeSH lifesciencedb.jp
Growth Disorders 成長障害 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Deafness 聾 MeSH lifesciencedb.jp
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp
Facial Paralysis 顔面麻痺 MeSH lifesciencedb.jp
Hypogonadism 性機能低下症 MeSH lifesciencedb.jp
Eye Abnormalities 眼奇形 MeSH lifesciencedb.jp
Hypospadias 尿道下裂 MeSH lifesciencedb.jp
Hearing Loss 難聴 MeSH lifesciencedb.jp
Goldenhar Syndrome Goldenhar症候群 MeSH lifesciencedb.jp
Translocation, Genetic 転座 MeSH lifesciencedb.jp
Central Nervous System Diseases 中枢神経系疾患 MeSH lifesciencedb.jp
Sexual Dysfunction, Physiological 性機能障害 MeSH lifesciencedb.jp
Cyanosis チアノーゼ MeSH lifesciencedb.jp
Facial Asymmetry 顔面非対称 MeSH lifesciencedb.jp
Tracheoesophageal Fistula 気管食道瘻 MeSH lifesciencedb.jp
Vestibular Diseases 前庭疾患 MeSH lifesciencedb.jp
Gonadal Dysgenesis, 46,XY 性器発育異常-46XY MeSH lifesciencedb.jp
Tetralogy of Fallot Fallot四徴症 MeSH lifesciencedb.jp
Diseases in Twins 双生児の疾患 MeSH lifesciencedb.jp
Holoprosencephaly 全前脳症 MeSH lifesciencedb.jp
Mouth Diseases 口腔疾患 MeSH lifesciencedb.jp
Micrognathism 小顎症 MeSH lifesciencedb.jp
Synostosis 骨癒合症 MeSH lifesciencedb.jp
Pulmonary Valve Stenosis 肺動脈弁狭窄症 MeSH lifesciencedb.jp
Cleft Palate 口蓋裂 MeSH lifesciencedb.jp
Encephalocele 脳ヘルニア MeSH lifesciencedb.jp
Failure to Thrive 成長不全 MeSH lifesciencedb.jp
Airway Obstruction 気道閉塞 MeSH lifesciencedb.jp
Heart Septal Defects, Ventricular 心室中隔欠損 MeSH lifesciencedb.jp
Heart Septal Defects, Atrial 心房中隔欠損 MeSH lifesciencedb.jp
Anus, Imperforate 鎖肛 MeSH lifesciencedb.jp
Chromosome Inversion 染色体逆位 MeSH lifesciencedb.jp
Microphthalmos 小眼球症 MeSH lifesciencedb.jp
Spinal Diseases 脊椎疾患 MeSH lifesciencedb.jp
Facies 顔貌 MeSH lifesciencedb.jp
Nails, Malformed 爪-変形 MeSH lifesciencedb.jp
Chromosome Breakage 染色体切断 MeSH lifesciencedb.jp
Syndactyly 合指症 MeSH lifesciencedb.jp
Down Syndrome Down症候群 MeSH lifesciencedb.jp
Congenital Abnormalities 奇形 MeSH lifesciencedb.jp
Craniofacial Abnormalities 頭蓋顔面奇形 MeSH lifesciencedb.jp
Fetal Diseases 胎児疾患 MeSH lifesciencedb.jp
Microcephaly 小頭症 MeSH lifesciencedb.jp
Dwarfism 低身長症 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp


Chemicals

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 MeSH term Japanese Link 01
DNA Helicases DNAヘリカーゼ MeSH lifesciencedb.jp
DNA-Binding Proteins DNA結合タンパク MeSH lifesciencedb.jp
Semaphorins セマフォリン MeSH lifesciencedb.jp
Retroelements レトロエレメント MeSH lifesciencedb.jp
PAX2 Transcription Factor - MeSH lifesciencedb.jp
Epidermal Growth Factor ウロガストロン MeSH lifesciencedb.jp
RNA Splice Sites RNAスプライス部位 MeSH lifesciencedb.jp
Follicle Stimulating Hormone 卵胞刺激ホルモン MeSH lifesciencedb.jp
Luteinizing Hormone 黄体形成ホルモン MeSH lifesciencedb.jp
Cell Adhesion Molecules 細胞接着分子 MeSH lifesciencedb.jp
Extracellular Matrix Proteins 細胞外マトリックス蛋白質 MeSH lifesciencedb.jp
DNA Probes DNA遺伝子プローブ MeSH lifesciencedb.jp
DNA デオキシリボ核酸 MeSH lifesciencedb.jp
Transcription Factors 転写因子 MeSH lifesciencedb.jp
DNA Primers プライマー-DNA 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
Translocation, Genetic 転座 MeSH lifesciencedb.jp
Retroelements レトロエレメント MeSH lifesciencedb.jp
Embryonic Development 胚発生 MeSH lifesciencedb.jp
Alu Elements Alu配列 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 2 ヒト第2染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 7 ヒト第7染色体 MeSH lifesciencedb.jp
Registries 登録 MeSH lifesciencedb.jp
Paternal Age 父性年齢 MeSH lifesciencedb.jp
Child Development 小児の発達 MeSH lifesciencedb.jp
Chromosome Inversion 染色体逆位 MeSH lifesciencedb.jp
Epidemiologic Methods 疫学的方法 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Maternal Age 母性年齢 MeSH lifesciencedb.jp
RNA Splice Sites RNAスプライス部位 MeSH lifesciencedb.jp
Gene Deletion 遺伝子欠失 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 21 ヒト第21染色体 MeSH lifesciencedb.jp
Chromosome Breakage 染色体切断 MeSH lifesciencedb.jp
Sequence Deletion 配列欠失 MeSH lifesciencedb.jp
Psychomotor Performance 精神運動能力 MeSH lifesciencedb.jp
Gestational Age 在胎月齢 MeSH lifesciencedb.jp
Gene Expression Regulation, Developmental 発生遺伝子発現調節 MeSH lifesciencedb.jp
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 14 ヒト第14染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 8 ヒト第8染色体 MeSH lifesciencedb.jp
Multigene Family 多重遺伝子族 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
Mutation 変異 MeSH lifesciencedb.jp
Twins, Monozygotic 一卵性双生児 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 22 ヒト第22染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 3 ヒト第3染色体 MeSH lifesciencedb.jp
Sex Distribution 性別分布 MeSH lifesciencedb.jp
Exons エクソン MeSH lifesciencedb.jp
Promoter Regions, Genetic プロモーター領域 MeSH lifesciencedb.jp
Pregnancy 妊娠 MeSH lifesciencedb.jp
Polymorphism, Single-Stranded Conformational PCR-SSCP法 MeSH lifesciencedb.jp
Sequence Homology, Amino Acid アミノ酸配列相同性 MeSH lifesciencedb.jp
Follow-Up Studies 追跡研究 MeSH lifesciencedb.jp
Genetic Variation 遺伝的多様性 MeSH lifesciencedb.jp
Genetic Testing 遺伝学的スクリーニング MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Cohort Studies コホート研究 MeSH lifesciencedb.jp
Heterozygote ヘテロ接合体 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Polymorphism, Genetic 遺伝子多型 MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp


Anatomy

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 MeSH term Japanese Link 01
Ear 耳 MeSH lifesciencedb.jp
Ear, External 外耳 MeSH lifesciencedb.jp
Genitalia 生殖器 MeSH lifesciencedb.jp
Nasopharynx 上咽頭 MeSH lifesciencedb.jp
Central Nervous System 中枢神経系 MeSH lifesciencedb.jp
Iris 虹彩 MeSH lifesciencedb.jp
Nasal Cavity 鼻腔 MeSH lifesciencedb.jp
Genitalia, Male 男性生殖器 MeSH lifesciencedb.jp
Embryo, Mammalian Embryo, Mammalian MeSH lifesciencedb.jp
Cranial Nerves 脳神経 MeSH lifesciencedb.jp
Ureter 尿管 MeSH lifesciencedb.jp
Vestibule, Labyrinth 前庭 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 2 ヒト第2染色体 MeSH lifesciencedb.jp
Retina 網膜 MeSH lifesciencedb.jp
Genitalia, Female 女性生殖器 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 7 ヒト第7染色体 MeSH lifesciencedb.jp
Optic Disk 視神経乳頭 MeSH lifesciencedb.jp
Ear, Inner 内耳 MeSH lifesciencedb.jp
Cochlea 蝸牛 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 21 ヒト第21染色体 MeSH lifesciencedb.jp
Nose 鼻 MeSH lifesciencedb.jp
Facial Bones 顔面骨 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 14 ヒト第14染色体 MeSH lifesciencedb.jp
Testis 精巣 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 8 ヒト第8染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 6 ヒト第6染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 22 ヒト第22染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 3 ヒト第3染色体 MeSH lifesciencedb.jp
Fingers 手指 MeSH lifesciencedb.jp
Face 顔面 MeSH lifesciencedb.jp
Kidney 腎臓 MeSH lifesciencedb.jp
Brain 脳 MeSH lifesciencedb.jp


Organisms

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 MeSH term Japanese Link 01
Cattle ウシ MeSH lifesciencedb.jp
Animals 動物 MeSH lifesciencedb.jp
Humans ヒト MeSH lifesciencedb.jp
Mice マウス MeSH lifesciencedb.jp


Database Center for Life Science