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01 312870 SGBS1 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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 MeSH term Japanese Link 01
Syndrome 症候群 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp
Gigantism 巨人症 MeSH lifesciencedb.jp
Growth Disorders 成長障害 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
Sex Chromosome Aberrations 性染色体異常 MeSH lifesciencedb.jp
Birth Weight 出生体重 MeSH lifesciencedb.jp
Beckwith-Wiedemann Syndrome Beckwith-Wiedemann症候群 MeSH lifesciencedb.jp
Acromegaly 先端巨大症 MeSH lifesciencedb.jp
Translocation, Genetic 転座 MeSH lifesciencedb.jp
Choledochal Cyst 総胆管嚢胞 MeSH lifesciencedb.jp
Facies 顔貌 MeSH lifesciencedb.jp
Heart Defects, Congenital 心臓疾患-先天性 MeSH lifesciencedb.jp
Muscle Hypotonia 筋緊張低下 MeSH lifesciencedb.jp
Hoarseness 嗄声 MeSH lifesciencedb.jp
Lymphangioma リンパ管腫 MeSH lifesciencedb.jp
Fetal Macrosomia 巨大胎児 MeSH lifesciencedb.jp
Heart Murmurs 心雑音 MeSH lifesciencedb.jp
Obesity 肥満 MeSH lifesciencedb.jp
Stomach Diseases 胃疾患 MeSH lifesciencedb.jp
Polyhydramnios 羊水過多症 MeSH lifesciencedb.jp
Hydrops Fetalis 胎児水腫 MeSH lifesciencedb.jp
Diseases in Twins 双生児の疾患 MeSH lifesciencedb.jp
Spasms, Infantile けいれん-乳児 MeSH lifesciencedb.jp
Pulmonary Valve Stenosis 肺動脈弁狭窄症 MeSH lifesciencedb.jp
Soft Tissue Neoplasms 軟部組織腫瘍 MeSH lifesciencedb.jp
Hernia, Umbilical 臍帯ヘルニア MeSH lifesciencedb.jp
半陰陽-仮性 MeSH lifesciencedb.jp
Speech Disorders 発話障害 MeSH lifesciencedb.jp
Intestinal Obstruction 腸閉塞 MeSH lifesciencedb.jp
Neuroblastoma 神経芽細胞腫 MeSH lifesciencedb.jp
Cardiomyopathy, Dilated 心筋症-拡張型 MeSH lifesciencedb.jp
Arrhythmias, Cardiac 不整脈 MeSH lifesciencedb.jp
Wilms Tumor 腎芽細胞腫 MeSH lifesciencedb.jp
Fetal Death 胎児死亡 MeSH lifesciencedb.jp
Genetic Diseases, Inborn 遺伝性疾患 MeSH lifesciencedb.jp
Congenital Abnormalities 奇形 MeSH lifesciencedb.jp
Craniofacial Abnormalities 頭蓋顔面奇形 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Cleft Lip 口唇裂 MeSH lifesciencedb.jp
Hand Deformities, Congenital 手の形態異常-先天性 MeSH lifesciencedb.jp
Cleft Palate 口蓋裂 MeSH lifesciencedb.jp
Chromosome Disorders 染色体疾患 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Disease Models, Animal 疾患モデル(動物) MeSH lifesciencedb.jp


Chemicals

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 MeSH term Japanese Link 01
Glypicans グリピカン MeSH lifesciencedb.jp
Heparan Sulfate Proteoglycans Heparan Sulfate Proteoglycans MeSH lifesciencedb.jp
Heparitin Sulfate ヘパラン硫酸 MeSH lifesciencedb.jp
Proteoglycans プロテオグリカン MeSH lifesciencedb.jp
Hypoxanthine Phosphoribosyltransferase グアニンホスホリボシルトランスフェラーゼ MeSH lifesciencedb.jp
Insulin-Like Growth Factor II インスリン様成長因子II MeSH lifesciencedb.jp
Insulin-Like Growth Factor I インスリン様成長因子I MeSH lifesciencedb.jp
Receptor, IGF Type 2 インスリン様成長因子II受容体 MeSH lifesciencedb.jp
Receptor, IGF Type 1 インスリン様成長因子I受容体 MeSH lifesciencedb.jp
High Mobility Group Proteins 高速移動群蛋白質 MeSH lifesciencedb.jp
DNA Primers プライマー-DNA MeSH lifesciencedb.jp
DNA デオキシリボ核酸 MeSH lifesciencedb.jp
Receptors, Androgen アンドロゲン受容体 MeSH lifesciencedb.jp
Intracellular Signaling Peptides and Proteins 細胞内シグナルペプチドと蛋白質 MeSH lifesciencedb.jp
Carrier Proteins 担体蛋白質 MeSH lifesciencedb.jp
Nuclear Proteins 核内蛋白質 MeSH lifesciencedb.jp
Transcription Factors 転写因子 MeSH lifesciencedb.jp
DNA-Binding Proteins DNA結合タンパク MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー 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
X Chromosome X染色体 MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Sex Chromosome Aberrations 性染色体異常 MeSH lifesciencedb.jp
Birth Weight 出生体重 MeSH lifesciencedb.jp
Translocation, Genetic 転座 MeSH lifesciencedb.jp
Sequence Deletion 配列欠失 MeSH lifesciencedb.jp
Chromosomes, Human, X ヒトX染色体 MeSH lifesciencedb.jp
Gene Deletion 遺伝子欠失 MeSH lifesciencedb.jp
Obesity 肥満 MeSH lifesciencedb.jp
Epigenesis, Genetic 遺伝的後生説 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 1 ヒト第1染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 11 ヒト第11染色体 MeSH lifesciencedb.jp
Fatal Outcome 致死的転帰 MeSH lifesciencedb.jp
Sex Ratio 性比 MeSH lifesciencedb.jp
Chromosomes, Human, 1-3 ヒト第1-3染色体 MeSH lifesciencedb.jp
Introns イントロン MeSH lifesciencedb.jp
Models, Statistical 統計モデル MeSH lifesciencedb.jp
Gene Duplication 遺伝子重複 MeSH lifesciencedb.jp
Twins, Dizygotic 二卵性双生児 MeSH lifesciencedb.jp
Heterozygote ヘテロ接合体 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Sex Chromosomes 性染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 16 ヒト第16染色体 MeSH lifesciencedb.jp
Lod Score ロッドスコア MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Genome, Human ヒトゲノム MeSH lifesciencedb.jp
DNA Methylation DNAメチル化 MeSH lifesciencedb.jp
Mosaicism モザイク現象 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
Genetic Counseling 遺伝相談 MeSH lifesciencedb.jp
Body Height 身長 MeSH lifesciencedb.jp
Protein Structure, Tertiary 蛋白質三次構造 MeSH lifesciencedb.jp
Frameshift Mutation フレームシフト変異 MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Risk リスク MeSH lifesciencedb.jp
Protein Binding 蛋白質結合 MeSH lifesciencedb.jp
Recombination, Genetic 遺伝子組換え MeSH lifesciencedb.jp
Exons エクソン MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Sequence Homology, Amino Acid アミノ酸配列相同性 MeSH lifesciencedb.jp
Gene Expression Regulation 遺伝子発現調節 MeSH lifesciencedb.jp
Signal Transduction シグナルトランスダクション MeSH lifesciencedb.jp
Polymorphism, Restriction Fragment Length 制限酵素断片長多型 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Cohort Studies コホート研究 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Genes, Dominant 優性遺伝子 MeSH lifesciencedb.jp
Pregnancy 妊娠 MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp
Polymorphism, Genetic 遺伝子多型 MeSH lifesciencedb.jp
Follow-Up Studies 追跡研究 MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp


Anatomy

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 MeSH term Japanese Link 01
X Chromosome X染色体 MeSH lifesciencedb.jp
Face 顔面 MeSH lifesciencedb.jp
Nipples 乳頭 MeSH lifesciencedb.jp
Skull 頭蓋骨 MeSH lifesciencedb.jp
Chromosomes, Human, X ヒトX染色体 MeSH lifesciencedb.jp
Facial Bones 顔面骨 MeSH lifesciencedb.jp
Ilium 腸骨 MeSH lifesciencedb.jp
Sacrum 仙骨 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 1 ヒト第1染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 11 ヒト第11染色体 MeSH lifesciencedb.jp
Tongue 舌 MeSH lifesciencedb.jp
Chromosomes, Human, 1-3 ヒト第1-3染色体 MeSH lifesciencedb.jp
Ear, External 外耳 MeSH lifesciencedb.jp
Sex Chromosomes 性染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 16 ヒト第16染色体 MeSH lifesciencedb.jp
Kidney 腎臓 MeSH lifesciencedb.jp
HeLa Cells Hela細胞 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 5 ヒト第5染色体 MeSH lifesciencedb.jp
Tumor Cells, Cultured 培養腫瘍細胞 MeSH lifesciencedb.jp
Leukocytes 白血球 MeSH lifesciencedb.jp
Bone and Bones 骨 MeSH lifesciencedb.jp
Skin 皮膚 MeSH lifesciencedb.jp
Cells, Cultured 培養細胞 MeSH lifesciencedb.jp
Cell Line 細胞系 MeSH lifesciencedb.jp


Organisms

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 MeSH term Japanese Link 01
Mice, Knockout ノックアウトマウス 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