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01 117550 - SOTOS SYNDROME ソトス症候群 OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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MeSH term Japanese Link 01
Gigantism 巨人症 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Growth Disorders 成長障害 MeSH lifesciencedb.jp
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp
Craniofacial Abnormalities 頭蓋顔面奇形 MeSH lifesciencedb.jp
Brain Diseases 脳疾患 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp
Acromegaly 先端巨大症 MeSH lifesciencedb.jp
Learning Disorders 学習障害 MeSH lifesciencedb.jp
Facies 顔貌 MeSH lifesciencedb.jp
Translocation, Genetic 転座 MeSH lifesciencedb.jp
Heart Defects, Congenital 心臓疾患-先天性 MeSH lifesciencedb.jp
Psychomotor Disorders 精神運動障害 MeSH lifesciencedb.jp
Carcinoma, Signet Ring Cell 印環細胞癌 MeSH lifesciencedb.jp
Intestinal Polyps 腸ポリープ MeSH lifesciencedb.jp
Muscle Hypotonia 筋緊張低下 MeSH lifesciencedb.jp
Oligohydramnios 羊水過少症 MeSH lifesciencedb.jp
Hydrocephalus 水頭症 MeSH lifesciencedb.jp
Fetal Macrosomia 巨大胎児 MeSH lifesciencedb.jp
Carcinoma, Small Cell 小細胞癌 MeSH lifesciencedb.jp
Beckwith-Wiedemann Syndrome Beckwith-Wiedemann症候群 MeSH lifesciencedb.jp
Prognathism 顎前突症 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Spinal Neoplasms 脊椎腫瘍 MeSH lifesciencedb.jp
Pigmentation Disorders 色素異常症 MeSH lifesciencedb.jp
Teratoma 奇形腫 MeSH lifesciencedb.jp
Body Weight 体重 MeSH lifesciencedb.jp
Strabismus 斜視 MeSH lifesciencedb.jp
Neurologic Manifestations 神経症状 MeSH lifesciencedb.jp
Cutis Laxa 皮膚弛緩症 MeSH lifesciencedb.jp
Lymphedema リンパ浮腫 MeSH lifesciencedb.jp
Diseases in Twins 双生児の疾患 MeSH lifesciencedb.jp
Nystagmus, Pathologic 眼振 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Bone Neoplasms 骨腫瘍 MeSH lifesciencedb.jp
Hypertelorism 隔離症 MeSH lifesciencedb.jp
Thyroiditis, Autoimmune 甲状腺炎-自己免疫性 MeSH lifesciencedb.jp
Birth Weight 出生体重 MeSH lifesciencedb.jp
Contracture 拘縮 MeSH lifesciencedb.jp
Hamartoma 過誤腫 MeSH lifesciencedb.jp
Neuroblastoma 神経芽細胞腫 MeSH lifesciencedb.jp
Edema 浮腫 MeSH lifesciencedb.jp
Craniofacial Dysostosis 頭蓋顔面異骨症 MeSH lifesciencedb.jp
Chromosome Disorders 染色体疾患 MeSH lifesciencedb.jp
Trisomy トリソミー MeSH lifesciencedb.jp
Gastrointestinal Diseases 胃腸疾患 MeSH lifesciencedb.jp
Wilms Tumor 腎芽細胞腫 MeSH lifesciencedb.jp
Infant, Newborn, Diseases 新生児疾患 MeSH lifesciencedb.jp
Stomach Neoplasms 胃腫瘍 MeSH lifesciencedb.jp
Craniosynostoses 頭蓋骨癒合症 MeSH lifesciencedb.jp
Foot Deformities, Congenital 足の形態異常-先天性 MeSH lifesciencedb.jp
Limb Deformities, Congenital 四肢奇形-先天性 MeSH lifesciencedb.jp
Charcot-Marie-Tooth Disease Charcot-Marie-Tooth病 MeSH lifesciencedb.jp
Respiratory Tract Infections 気道感染 MeSH lifesciencedb.jp
Lung Neoplasms 肺腫瘍 MeSH lifesciencedb.jp
Kidney Neoplasms 腎臓腫瘍 MeSH lifesciencedb.jp
Hand Deformities, Congenital 手の形態異常-先天性 MeSH lifesciencedb.jp
Prader-Willi Syndrome Prader-Willi症候群 MeSH lifesciencedb.jp
Genetic Predisposition to Disease 遺伝的素因(疾患) MeSH lifesciencedb.jp



Chemicals

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MeSH term Japanese Link 01
Intracellular Signaling Peptides and Proteins 細胞内シグナルペプチドと蛋白質 MeSH lifesciencedb.jp
Nuclear Proteins 核内蛋白質 MeSH lifesciencedb.jp
Carrier Proteins 担体蛋白質 MeSH lifesciencedb.jp
Growth Hormone 成長ホルモン MeSH lifesciencedb.jp
Histone-Lysine N-Methyltransferase ヒストン-リジン-N-メチルトランスフェラーゼ MeSH lifesciencedb.jp
Vascular Endothelial Growth Factor Receptor-3 血管内皮増殖因子受容体-3 MeSH lifesciencedb.jp
Retroelements レトロエレメント MeSH lifesciencedb.jp
Amino Acids アミノ酸 MeSH lifesciencedb.jp
Insulin インスリン MeSH lifesciencedb.jp
17-Hydroxycorticosteroids 17-ヒドロキシコルチコステロイド MeSH lifesciencedb.jp
Somatomedins インスリン様成長因子 MeSH lifesciencedb.jp
17-Ketosteroids 17-オキソステロイド MeSH lifesciencedb.jp
KCNQ Potassium Channels KCNQチャネル MeSH lifesciencedb.jp
KCNQ1 Potassium Channel KCNQ1遺伝子産物 MeSH lifesciencedb.jp
RNA, Untranslated 非翻訳RNA MeSH lifesciencedb.jp
Gonadotropins ゴナドトロピン MeSH lifesciencedb.jp
Potassium Channels, Voltage-Gated カリウムチャネル-電位依存性 MeSH lifesciencedb.jp
Phosphorus リン MeSH lifesciencedb.jp
Valine バリン MeSH lifesciencedb.jp
Potassium Channels カリウムチャンネル MeSH lifesciencedb.jp
Prolactin 下垂体性乳腺刺激ホルモン MeSH lifesciencedb.jp
Glycine アミノ酢酸 MeSH lifesciencedb.jp
Blood Glucose 血糖 MeSH lifesciencedb.jp
Codon, Nonsense ナンセンスコドン MeSH lifesciencedb.jp
Arginine アルギニン MeSH lifesciencedb.jp
Repressor Proteins レプレッサー蛋白質 MeSH lifesciencedb.jp
Calcium カルシウム MeSH lifesciencedb.jp
DNA, Complementary 相補的DNA MeSH lifesciencedb.jp
DNA デオキシリボ核酸 MeSH lifesciencedb.jp
DNA Primers プライマー-DNA MeSH lifesciencedb.jp
Proteins 蛋白質 MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp



Biological Phenomena

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MeSH term Japanese Link 01
Chromosomes, Human, Pair 5 ヒト第5染色体 MeSH lifesciencedb.jp
Genes, Dominant 優性遺伝子 MeSH lifesciencedb.jp
Anthropometry 身体計測 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Translocation, Genetic 転座 MeSH lifesciencedb.jp
Gene Deletion 遺伝子欠失 MeSH lifesciencedb.jp
Sequence Deletion 配列欠失 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 3 ヒト第3染色体 MeSH lifesciencedb.jp
Body Height 身長 MeSH lifesciencedb.jp
Repetitive Sequences, Nucleic Acid 核酸反復配列 MeSH lifesciencedb.jp
Chromosomes, Human ヒト染色体 MeSH lifesciencedb.jp
Terminal Repeat Sequences 末端反復配列 MeSH lifesciencedb.jp
Base Pairing 塩基対 MeSH lifesciencedb.jp
Retroelements レトロエレメント MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Inbreeding 近交交配 MeSH lifesciencedb.jp
Sequence Homology 配列相同性 MeSH lifesciencedb.jp
Gene Conversion 遺伝子変換 MeSH lifesciencedb.jp
Body Constitution 体質 MeSH lifesciencedb.jp
DNA Methylation DNAメチル化 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 6 ヒト第6染色体 MeSH lifesciencedb.jp
Mosaicism モザイク現象 MeSH lifesciencedb.jp
Twins, Monozygotic 一卵性双生児 MeSH lifesciencedb.jp
Body Weight 体重 MeSH lifesciencedb.jp
Dinucleotide Repeats ジヌクレオチド反復 MeSH lifesciencedb.jp
Paternal Age 父性年齢 MeSH lifesciencedb.jp
Frameshift Mutation フレームシフト変異 MeSH lifesciencedb.jp
Cytogenetics 細胞遺伝学 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Bone Development 骨発育 MeSH lifesciencedb.jp
Crossing Over, Genetic 遺伝的乗換え MeSH lifesciencedb.jp
Cephalometry 頭部計測法 MeSH lifesciencedb.jp
Birth Weight 出生体重 MeSH lifesciencedb.jp
Telomere テロメア MeSH lifesciencedb.jp
Cosmids コスミド MeSH lifesciencedb.jp
Gait 歩行 MeSH lifesciencedb.jp
Maternal Age 母性年齢 MeSH lifesciencedb.jp
Evolution, Molecular 分子進化 MeSH lifesciencedb.jp
Zinc Fingers 亜鉛フィンガー MeSH lifesciencedb.jp
Gene Duplication 遺伝子重複 MeSH lifesciencedb.jp
Centromere セントロメア MeSH lifesciencedb.jp
Chromosomes, Human, Pair 20 ヒト第20染色体 MeSH lifesciencedb.jp
Phylogeny 系統発生 MeSH lifesciencedb.jp
Trisomy トリソミー MeSH lifesciencedb.jp
Polymorphism, Genetic 遺伝子多型 MeSH lifesciencedb.jp
Gene Dosage 遺伝子量 MeSH lifesciencedb.jp
Gene Rearrangement 遺伝子再配列 MeSH lifesciencedb.jp
Polymorphism, Single Nucleotide 一塩基多型 MeSH lifesciencedb.jp
Genetics, Population 集団遺伝学 MeSH lifesciencedb.jp
Exons エクソン MeSH lifesciencedb.jp
Sequence Homology, Nucleic Acid 核酸配列相同性 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 19 ヒト第19染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 8 ヒト第8染色体 MeSH lifesciencedb.jp
Microsatellite Repeats マイクロサテライトリピート MeSH lifesciencedb.jp
Codon, Nonsense ナンセンスコドン MeSH lifesciencedb.jp
Genome, Human ヒトゲノム MeSH lifesciencedb.jp
Species Specificity 種特異性 MeSH lifesciencedb.jp
Genomic Imprinting 遺伝子刷り込み MeSH lifesciencedb.jp
Genetics, Medical 医科遺伝学 MeSH lifesciencedb.jp
Genetic Counseling 遺伝相談 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Protein Structure, Tertiary 蛋白質三次構造 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 15 ヒト第15染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 11 ヒト第11染色体 MeSH lifesciencedb.jp
Recombination, Genetic 遺伝子組換え MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp
Gene Frequency 遺伝子頻度 MeSH lifesciencedb.jp
Aging 加齢 MeSH lifesciencedb.jp
Introns イントロン MeSH lifesciencedb.jp
Promoter Regions, Genetic プロモーター領域 MeSH lifesciencedb.jp
Sequence Homology, Amino Acid アミノ酸配列相同性 MeSH lifesciencedb.jp
Genetic Variation 遺伝的多様性 MeSH lifesciencedb.jp
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Homozygote ホモ接合体 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Pregnancy 妊娠 MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Heterozygote ヘテロ接合体 MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp
Genetic Predisposition to Disease 遺伝的素因(疾患) MeSH lifesciencedb.jp
Alleles 対立遺伝子 MeSH lifesciencedb.jp
Case-Control Studies 症例対照研究 MeSH lifesciencedb.jp
Point Mutation 点変異 MeSH lifesciencedb.jp



Anatomy

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MeSH term Japanese Link 01
Chromosomes, Human, Pair 5 ヒト第5染色体 MeSH lifesciencedb.jp
Skull 頭蓋骨 MeSH lifesciencedb.jp
Facial Bones 顔面骨 MeSH lifesciencedb.jp
Head 頭部 MeSH lifesciencedb.jp
Face 顔面 MeSH lifesciencedb.jp
Penis 陰茎 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 3 ヒト第3染色体 MeSH lifesciencedb.jp
Chromosomes, Human ヒト染色体 MeSH lifesciencedb.jp
Sacrococcygeal Region 仙尾骨部 MeSH lifesciencedb.jp
Brain MeSH lifesciencedb.jp
Chromosomes, Human, Pair 6 ヒト第6染色体 MeSH lifesciencedb.jp
Metacarpus 中手骨 MeSH lifesciencedb.jp
Palate 口蓋 MeSH lifesciencedb.jp
Fingers 手指 MeSH lifesciencedb.jp
Cerebral Ventricles 脳室 MeSH lifesciencedb.jp
Telomere テロメア MeSH lifesciencedb.jp
Centromere セントロメア MeSH lifesciencedb.jp
Chromosomes, Human, Pair 20 ヒト第20染色体 MeSH lifesciencedb.jp
Corpus Callosum 脳梁 MeSH lifesciencedb.jp
Bone and Bones MeSH lifesciencedb.jp
Chromosomes, Human, Pair 19 ヒト第19染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 8 ヒト第8染色体 MeSH lifesciencedb.jp
Hand MeSH lifesciencedb.jp
Chromosomes, Human, Pair 15 ヒト第15染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 11 ヒト第11染色体 MeSH lifesciencedb.jp
Muscles MeSH lifesciencedb.jp



Organisms

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MeSH term Japanese Link 01
Animals 動物 MeSH lifesciencedb.jp
Pan troglodytes チンパンジー MeSH lifesciencedb.jp
Humans ヒト MeSH lifesciencedb.jp



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