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01 108300 STL1 STICKLER SYNDROME, TYPE I スティックラー症候群 OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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MeSH term Japanese Link 01
Syndrome 症候群 MeSH lifesciencedb.jp
Eye Diseases 眼疾患 MeSH lifesciencedb.jp
Myopia 近視 MeSH lifesciencedb.jp
Retinal Detachment 網膜剥離 MeSH lifesciencedb.jp
Joint Diseases 関節疾患 MeSH lifesciencedb.jp
Connective Tissue Diseases 結合組織疾患 MeSH lifesciencedb.jp
Eye Diseases, Hereditary 眼疾患-遺伝性 MeSH lifesciencedb.jp
Cleft Palate 口蓋裂 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp
Pierre Robin Syndrome Pierre Robin症候群 MeSH lifesciencedb.jp
Deafness MeSH lifesciencedb.jp
Micrognathism 小顎症 MeSH lifesciencedb.jp
Hearing Loss, Sensorineural 難聴-内耳性 MeSH lifesciencedb.jp
Cataract 白内障 MeSH lifesciencedb.jp
Glaucoma 緑内障 MeSH lifesciencedb.jp
Blindness 失明 MeSH lifesciencedb.jp
Retinal Degeneration 網膜変性症 MeSH lifesciencedb.jp
Aphakia 無水晶体症 MeSH lifesciencedb.jp
Osteochondrodysplasias 骨軟骨形成異常症 MeSH lifesciencedb.jp
Lens Diseases 水晶体疾患 MeSH lifesciencedb.jp
Esotropia 内斜視 MeSH lifesciencedb.jp
Maxillary Diseases 上顎疾患 MeSH lifesciencedb.jp
Retinal Diseases 網膜疾患 MeSH lifesciencedb.jp
Bone Diseases, Developmental 骨発育異常 MeSH lifesciencedb.jp
Keratitis 角膜炎 MeSH lifesciencedb.jp
Malocclusion 不正咬合 MeSH lifesciencedb.jp
Uveitis ブドウ膜炎 MeSH lifesciencedb.jp
Mitral Valve Prolapse 僧帽弁逸脱 MeSH lifesciencedb.jp
Joint Instability 関節不安定症 MeSH lifesciencedb.jp
Mucopolysaccharidosis IV ムコ多糖症IV型 MeSH lifesciencedb.jp
Anodontia 無歯症 MeSH lifesciencedb.jp
Night Blindness 夜盲症 MeSH lifesciencedb.jp
Hearing Loss 難聴 MeSH lifesciencedb.jp
Facies 顔貌 MeSH lifesciencedb.jp
Collagen Diseases 膠原病 MeSH lifesciencedb.jp
Bone Diseases 骨疾患 MeSH lifesciencedb.jp
Craniofacial Abnormalities 頭蓋顔面奇形 MeSH lifesciencedb.jp
Eye Abnormalities 眼奇形 MeSH lifesciencedb.jp
Cleft Lip 口唇裂 MeSH lifesciencedb.jp
Dwarfism 低身長症 MeSH lifesciencedb.jp
Pregnancy Complications 妊娠合併症 MeSH lifesciencedb.jp
Arthritis 関節炎 MeSH lifesciencedb.jp
Translocation, Genetic 転座 MeSH lifesciencedb.jp
Chromosome Disorders 染色体疾患 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Disease Progression 病勢悪化 MeSH lifesciencedb.jp



Chemicals

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MeSH term Japanese Link 01
Collagen 膠原 MeSH lifesciencedb.jp
Collagen Type II コラーゲンII型 MeSH lifesciencedb.jp
Codon, Terminator 終止コドン MeSH lifesciencedb.jp
Collagen Type XI コラーゲンXI型 MeSH lifesciencedb.jp
Biopolymers 生体高分子 MeSH lifesciencedb.jp
Ions イオン MeSH lifesciencedb.jp
DNA Probes DNA遺伝子プローブ MeSH lifesciencedb.jp
Hydroxyproline ヒドロキシプロリン MeSH lifesciencedb.jp
Procollagen プロコラーゲン MeSH lifesciencedb.jp
RNA Splice Sites RNAスプライス部位 MeSH lifesciencedb.jp
RNA, Messenger メッセンジャーRNA MeSH lifesciencedb.jp
Calcium-Binding Proteins カルシウム結合蛋白質 MeSH lifesciencedb.jp
Glycine アミノ酢酸 MeSH lifesciencedb.jp
Extracellular Matrix Proteins 細胞外マトリックス蛋白質 MeSH lifesciencedb.jp
Transcription Factors 転写因子 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
RNA Splicing RNAスプライシング MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Polymorphism, Restriction Fragment Length 制限酵素断片長多型 MeSH lifesciencedb.jp
Genetic Variation 遺伝的多様性 MeSH lifesciencedb.jp
Codon, Terminator 終止コドン MeSH lifesciencedb.jp
Gene Amplification 遺伝子増幅 MeSH lifesciencedb.jp
Genes, Dominant 優性遺伝子 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Biochemistry 生化学 MeSH lifesciencedb.jp
Hearing 聴覚 MeSH lifesciencedb.jp
Child Development 小児の発達 MeSH lifesciencedb.jp
Introns イントロン MeSH lifesciencedb.jp
Cephalometry 頭部計測法 MeSH lifesciencedb.jp
Age Factors 年齢因子 MeSH lifesciencedb.jp
RNA Splice Sites RNAスプライス部位 MeSH lifesciencedb.jp
Exons エクソン MeSH lifesciencedb.jp
Pathology 病理学 MeSH lifesciencedb.jp
Molecular Biology 分子生物学 MeSH lifesciencedb.jp
Homeostasis ホメオスタシス MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Genetic Testing 遺伝学的スクリーニング MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Microsatellite Repeats マイクロサテライトリピート MeSH lifesciencedb.jp
Statistics as Topic Statistics as Topic MeSH lifesciencedb.jp
Chromosomes, Human, Pair 12 ヒト第12染色体 MeSH lifesciencedb.jp
Lod Score ロッドスコア MeSH lifesciencedb.jp
Homozygote ホモ接合体 MeSH lifesciencedb.jp
Genome, Human ヒトゲノム MeSH lifesciencedb.jp
Chromosomes, Human, Pair 5 ヒト第5染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 22 ヒト第22染色体 MeSH lifesciencedb.jp
Alternative Splicing 選択的スプライシング MeSH lifesciencedb.jp
Genetics, Medical 医科遺伝学 MeSH lifesciencedb.jp
Visual Acuity 視力 MeSH lifesciencedb.jp
Genetic Counseling 遺伝相談 MeSH lifesciencedb.jp
Frameshift Mutation フレームシフト変異 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 17 ヒト第17染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 1 ヒト第1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
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Amino Acid Substitution アミノ酸置換 MeSH lifesciencedb.jp
Translocation, Genetic 転座 MeSH lifesciencedb.jp
Genes 遺伝子 MeSH lifesciencedb.jp
Polymorphism, Single Nucleotide 一塩基多型 MeSH lifesciencedb.jp
Sequence Deletion 配列欠失 MeSH lifesciencedb.jp
Alleles 対立遺伝子 MeSH lifesciencedb.jp
Consanguinity 血族 MeSH lifesciencedb.jp
Questionnaires アンケート MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Prevalence 有病率 MeSH lifesciencedb.jp
Point Mutation 点変異 MeSH lifesciencedb.jp
Cohort Studies コホート研究 MeSH lifesciencedb.jp
Haplotypes ハプロタイプ MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 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



Anatomy

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MeSH term Japanese Link 01
Vitreous Body 硝子体 MeSH lifesciencedb.jp
Face 顔面 MeSH lifesciencedb.jp
Retina 網膜 MeSH lifesciencedb.jp
Acetabulum 寛骨臼 MeSH lifesciencedb.jp
Ear, Middle 中耳 MeSH lifesciencedb.jp
Hip 股関節部 MeSH lifesciencedb.jp
Joints 関節 MeSH lifesciencedb.jp
Knee MeSH lifesciencedb.jp
Bone and Bones MeSH lifesciencedb.jp
Extracellular Matrix 細胞外基質 MeSH lifesciencedb.jp
Fundus Oculi 眼底 MeSH lifesciencedb.jp
Spine 脊柱 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 12 ヒト第12染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 5 ヒト第5染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 22 ヒト第22染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 17 ヒト第17染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 1 ヒト第1染色体 MeSH lifesciencedb.jp



Organisms

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MeSH term Japanese Link 01
Humans ヒト MeSH lifesciencedb.jp



Database Center for Life Science