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01 110100 BPES BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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MeSH term Japanese Link 01
Blepharophimosis 瞼裂縮小症 MeSH lifesciencedb.jp
Blepharoptosis 眼瞼下垂 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp
Primary Ovarian Insufficiency 卵巣不全-早期 MeSH lifesciencedb.jp
Infertility, Female 不妊症-女性 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Translocation, Genetic 転座 MeSH lifesciencedb.jp
Eyelid Diseases 眼瞼疾患 MeSH lifesciencedb.jp
Eye Abnormalities 眼奇形 MeSH lifesciencedb.jp
Menopause, Premature 閉経-早発 MeSH lifesciencedb.jp
Chromosome Disorders 染色体疾患 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp
Amenorrhea 無月経 MeSH lifesciencedb.jp
Microcephaly 小頭症 MeSH lifesciencedb.jp
Coloboma 眼組織欠損症 MeSH lifesciencedb.jp
Nose Diseases 鼻疾患 MeSH lifesciencedb.jp
Skin Abnormalities 皮膚先天異常 MeSH lifesciencedb.jp
Laryngostenosis 喉頭狭窄 MeSH lifesciencedb.jp
Esotropia 内斜視 MeSH lifesciencedb.jp
Inappropriate ADH Syndrome ADH不適合分泌症候群 MeSH lifesciencedb.jp
Menstruation Disturbances 月経異常 MeSH lifesciencedb.jp
Duane Retraction Syndrome Duane症候群 MeSH lifesciencedb.jp
Ovarian Diseases 卵巣疾患 MeSH lifesciencedb.jp
Retinoblastoma 網膜芽細胞腫 MeSH lifesciencedb.jp
半陰陽 MeSH lifesciencedb.jp
Hernia, Diaphragmatic 横隔膜ヘルニア MeSH lifesciencedb.jp
Heart Septal Defects, Ventricular 心室中隔欠損 MeSH lifesciencedb.jp
Growth Disorders 成長障害 MeSH lifesciencedb.jp
Chromosome Breakage 染色体切断 MeSH lifesciencedb.jp
Trisomy トリソミー MeSH lifesciencedb.jp
DiGeorge Syndrome DiGeorge症候群 MeSH lifesciencedb.jp
Wilms Tumor 腎芽細胞腫 MeSH lifesciencedb.jp
Vision Disorders 視覚障害 MeSH lifesciencedb.jp
Genetic Diseases, Inborn 遺伝性疾患 MeSH lifesciencedb.jp
Congenital Abnormalities 奇形 MeSH lifesciencedb.jp
Beckwith-Wiedemann Syndrome Beckwith-Wiedemann症候群 MeSH lifesciencedb.jp
Fetal Diseases 胎児疾患 MeSH lifesciencedb.jp
Sex Chromosome Aberrations 性染色体異常 MeSH lifesciencedb.jp
Kidney Neoplasms 腎臓腫瘍 MeSH lifesciencedb.jp
Dwarfism 低身長症 MeSH lifesciencedb.jp
Diseases in Twins 双生児の疾患 MeSH lifesciencedb.jp
Prader-Willi Syndrome Prader-Willi症候群 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
Forkhead Transcription Factors FKH遺伝子産物 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
Coatomer Protein コートマー蛋白質 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
Clomiphene クロミフェン MeSH lifesciencedb.jp
Codon, Nonsense ナンセンスコドン MeSH lifesciencedb.jp
Retinol-Binding Proteins レチノール結合蛋白質 MeSH lifesciencedb.jp
Menotropins 性腺刺激ホルモン-ヒト閉経期尿性 MeSH lifesciencedb.jp
Proton-Translocating ATPases プロトン輸送性ATPアーゼ MeSH lifesciencedb.jp
Twist Transcription Factor Cetwist蛋白質 MeSH lifesciencedb.jp
Thymine チミン MeSH lifesciencedb.jp
Gonadotropins, Pituitary 下垂体性性腺刺激ホルモン MeSH lifesciencedb.jp
Ki-67 Antigen Ki-67抗原 MeSH lifesciencedb.jp
Cytosine シトシン MeSH lifesciencedb.jp
Guanine グアニン MeSH lifesciencedb.jp
Histidine ヒスチジン MeSH lifesciencedb.jp
Gonadal Steroid Hormones 性腺ステロイドホルモン MeSH lifesciencedb.jp
Serine セリン MeSH lifesciencedb.jp
Microtubule-Associated Proteins 微小管結合蛋白質 MeSH lifesciencedb.jp
Tyrosine チロシン MeSH lifesciencedb.jp
Estradiol エストラジオール MeSH lifesciencedb.jp
Cysteine システイン MeSH lifesciencedb.jp
DNA, Satellite サテライトDNA MeSH lifesciencedb.jp
Blood Group Antigens 血液型抗原 MeSH lifesciencedb.jp
DNA Primers プライマー-DNA MeSH lifesciencedb.jp
Peptides ペプチド MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp
Nuclear Proteins 核内蛋白質 MeSH lifesciencedb.jp
DNA デオキシリボ核酸 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 3 ヒト第3染色体 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Translocation, Genetic 転座 MeSH lifesciencedb.jp
Genes, Dominant 優性遺伝子 MeSH lifesciencedb.jp
Menopause, Premature 閉経-早発 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 7 ヒト第7染色体 MeSH lifesciencedb.jp
Genes, sry sry遺伝子 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Sequence Tagged Sites 配列標識部位 MeSH lifesciencedb.jp
Chromosomes, Human, 1-3 ヒト第1-3染色体 MeSH lifesciencedb.jp
Expressed Sequence Tags 発現配列タグ MeSH lifesciencedb.jp
Polyadenylation ポリアデニル化 MeSH lifesciencedb.jp
Genetic Heterogeneity 遺伝的異質性 MeSH lifesciencedb.jp
Chromosomes, Artificial, Yeast 酵母人工染色体 MeSH lifesciencedb.jp
DNA Repeat Expansion DNA反復配列の増加 MeSH lifesciencedb.jp
Ophthalmology 眼科学 MeSH lifesciencedb.jp
Codon, Nonsense ナンセンスコドン MeSH lifesciencedb.jp
Chromosome Segregation 染色体分離 MeSH lifesciencedb.jp
Immunochemistry 免疫化学 MeSH lifesciencedb.jp
Gene Deletion 遺伝子欠失 MeSH lifesciencedb.jp
Skin Pigmentation 皮膚色素沈着 MeSH lifesciencedb.jp
Genetic Counseling 遺伝相談 MeSH lifesciencedb.jp
Paternal Age 父性年齢 MeSH lifesciencedb.jp
Sex Ratio 性比 MeSH lifesciencedb.jp
Menopause 閉経 MeSH lifesciencedb.jp
Cosmids コスミド MeSH lifesciencedb.jp
Y Chromosome Y染色体 MeSH lifesciencedb.jp
Maternal Age 母性年齢 MeSH lifesciencedb.jp
Evolution, Molecular 分子進化 MeSH lifesciencedb.jp
Mutagenesis, Insertional 挿入型変異誘発 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 21 ヒト第21染色体 MeSH lifesciencedb.jp
Transcription, Genetic 転写 MeSH lifesciencedb.jp
Gene Library 遺伝子ライブラリー MeSH lifesciencedb.jp
Chromosome Breakage 染色体切断 MeSH lifesciencedb.jp
Gene Duplication 遺伝子重複 MeSH lifesciencedb.jp
Trisomy トリソミー MeSH lifesciencedb.jp
DNA, Satellite サテライトDNA MeSH lifesciencedb.jp
Gestational Age 在胎月齢 MeSH lifesciencedb.jp
Polymorphism, Single-Stranded Conformational PCR-SSCP法 MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) 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
Protein Biosynthesis 蛋白質生合成 MeSH lifesciencedb.jp
Sequence Deletion 配列欠失 MeSH lifesciencedb.jp
Genetic Variation 遺伝的多様性 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Sex Chromosome Aberrations 性染色体異常 MeSH lifesciencedb.jp
Mosaicism モザイク現象 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 2 ヒト第2染色体 MeSH lifesciencedb.jp
Genetics, Medical 医科遺伝学 MeSH lifesciencedb.jp
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Visual Acuity 視力 MeSH lifesciencedb.jp
Binding Sites 結合部位 MeSH lifesciencedb.jp
Frameshift Mutation フレームシフト変異 MeSH lifesciencedb.jp
Nucleic Acid Hybridization 核酸ハイブリダイゼーション MeSH lifesciencedb.jp
Chromosomes, Human, Pair 11 ヒト第11染色体 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Genes 遺伝子 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
Alleles 対立遺伝子 MeSH lifesciencedb.jp
Gene Expression Regulation 遺伝子発現調節 MeSH lifesciencedb.jp
Polymorphism, Single Nucleotide 一塩基多型 MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp
Genetic Testing 遺伝学的スクリーニング MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Microsatellite Repeats マイクロサテライトリピート MeSH lifesciencedb.jp
X Chromosome X染色体 MeSH lifesciencedb.jp
Haplotypes ハプロタイプ MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Pregnancy 妊娠 MeSH lifesciencedb.jp
Sex Factors 性因子(疫学) MeSH lifesciencedb.jp
Heterozygote ヘテロ接合体 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
Polymorphism, Genetic 遺伝子多型 MeSH lifesciencedb.jp



Anatomy

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MeSH term Japanese Link 01
Eyelids 眼瞼 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 3 ヒト第3染色体 MeSH lifesciencedb.jp
Ovary 卵巣 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 7 ヒト第7染色体 MeSH lifesciencedb.jp
Chromosomes, Human, 1-3 ヒト第1-3染色体 MeSH lifesciencedb.jp
Uvea ブドウ膜 MeSH lifesciencedb.jp
Chromosomes, Artificial, Yeast 酵母人工染色体 MeSH lifesciencedb.jp
Toes 足指 MeSH lifesciencedb.jp
Face 顔面 MeSH lifesciencedb.jp
Y Chromosome Y染色体 MeSH lifesciencedb.jp
Ear MeSH lifesciencedb.jp
Chromosomes, Human, Pair 21 ヒト第21染色体 MeSH lifesciencedb.jp
Embryo, Mammalian Embryo, Mammalian MeSH lifesciencedb.jp
Nose MeSH lifesciencedb.jp
Iris 虹彩 MeSH lifesciencedb.jp
Spine 脊柱 MeSH lifesciencedb.jp
Brain MeSH lifesciencedb.jp
COS Cells COS細胞 MeSH lifesciencedb.jp
Hybrid Cells ハイブリッド細胞 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 2 ヒト第2染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 11 ヒト第11染色体 MeSH lifesciencedb.jp
X Chromosome X染色体 MeSH lifesciencedb.jp
Kidney 腎臓 MeSH lifesciencedb.jp



Organisms

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MeSH term Japanese Link 01
Goats ヤギ MeSH lifesciencedb.jp
Cercopithecus aethiops ミドリザル MeSH lifesciencedb.jp
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



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