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01 222600 - DIASTROPHIC DYSPLASIA - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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MeSH term Japanese Link 01
Osteochondrodysplasias 骨軟骨形成異常症 MeSH lifesciencedb.jp
Dwarfism 低身長症 MeSH lifesciencedb.jp
Bone Diseases, Developmental 骨発育異常 MeSH lifesciencedb.jp
Clubfoot 内反足 MeSH lifesciencedb.jp
Scoliosis 脊柱側彎症 MeSH lifesciencedb.jp
Ear Deformities, Acquired 外耳変形-後天性 MeSH lifesciencedb.jp
Pregnancy Complications 妊娠合併症 MeSH lifesciencedb.jp
Cleft Palate 口蓋裂 MeSH lifesciencedb.jp
Dyspnea 呼吸困難 MeSH lifesciencedb.jp
Hand Deformities, Acquired 手の形態異常-後天性 MeSH lifesciencedb.jp
Ectromelia 欠肢症 MeSH lifesciencedb.jp
Exostoses, Multiple Hereditary 骨軟骨腫-多発性遺伝性 MeSH lifesciencedb.jp
Birth Weight 出生体重 MeSH lifesciencedb.jp
Mandibulofacial Dysostosis 下顎顔面異骨症 MeSH lifesciencedb.jp
Contracture 拘縮 MeSH lifesciencedb.jp
Trisomy トリソミー MeSH lifesciencedb.jp
Bone Diseases 骨疾患 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
Arthritis, Juvenile Rheumatoid 関節リウマチ-若年性 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp
Fetal Diseases 胎児疾患 MeSH lifesciencedb.jp
Obesity 肥満 MeSH lifesciencedb.jp
Body Weight 体重 MeSH lifesciencedb.jp
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp
Diseases in Twins 双生児の疾患 MeSH lifesciencedb.jp
Heart Defects, Congenital 心臓疾患-先天性 MeSH lifesciencedb.jp
Chromosome Disorders 染色体疾患 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp



Chemicals

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MeSH term Japanese Link 01
Anion Transport Proteins 陰イオン輸送蛋白質 MeSH lifesciencedb.jp
Membrane Transport Proteins 膜輸送蛋白質 MeSH lifesciencedb.jp
Carrier Proteins 担体蛋白質 MeSH lifesciencedb.jp
Sulfates 硫酸塩 MeSH lifesciencedb.jp
Collagen 膠原 MeSH lifesciencedb.jp
Osteonectin オステオネクチン MeSH lifesciencedb.jp
Receptor, Macrophage Colony-Stimulating Factor CD115抗原 MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp
Sialyltransferases シアリルトランスフェラーゼ MeSH lifesciencedb.jp
Collagen Type IX コラーゲンIX型 MeSH lifesciencedb.jp
Insulin-Like Growth Factor Binding Proteins インスリン様成長因子結合蛋白質 MeSH lifesciencedb.jp
Antiporters 対向輸送体 MeSH lifesciencedb.jp
Receptors, Glucocorticoid グルココルチコイド受容体 MeSH lifesciencedb.jp
Phosphoproteins リン蛋白質 MeSH lifesciencedb.jp
Extracellular Matrix Proteins 細胞外マトリックス蛋白質 MeSH lifesciencedb.jp
Neoplasm Proteins 腫瘍蛋白質 MeSH lifesciencedb.jp
DNA Probes DNA遺伝子プローブ MeSH lifesciencedb.jp
Glycoproteins 糖蛋白質 MeSH lifesciencedb.jp
DNA, Complementary 相補的DNA MeSH lifesciencedb.jp
DNA デオキシリボ核酸 MeSH lifesciencedb.jp
Nuclear Proteins 核内蛋白質 MeSH lifesciencedb.jp
Proteins 蛋白質 MeSH lifesciencedb.jp
Membrane Proteins 膜蛋白質 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 5 ヒト第5染色体 MeSH lifesciencedb.jp
Pregnancy 妊娠 MeSH lifesciencedb.jp
Gestational Age 在胎月齢 MeSH lifesciencedb.jp
Founder Effect 創始者効果 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
Genomic Library ゲノムライブラリー MeSH lifesciencedb.jp
Linkage Disequilibrium 連鎖不平衡 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Pregnancy Trimester, First 妊娠前期 MeSH lifesciencedb.jp
Pregnancy Trimester, Second 妊娠中期 MeSH lifesciencedb.jp
Chromosomes, Human, 16-18 ヒト第16-18染色体 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Cephalometry 頭部計測法 MeSH lifesciencedb.jp
Birth Weight 出生体重 MeSH lifesciencedb.jp
Data Interpretation, Statistical 統計的データ解釈 MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Twins, Dizygotic 二卵性双生児 MeSH lifesciencedb.jp
Trisomy トリソミー MeSH lifesciencedb.jp
Growth 成長 MeSH lifesciencedb.jp
Anthropometry 身体計測 MeSH lifesciencedb.jp
Polymorphism, Genetic 遺伝子多型 MeSH lifesciencedb.jp
Genetics, Population 集団遺伝学 MeSH lifesciencedb.jp
Pregnancy Outcome 妊娠転帰 MeSH lifesciencedb.jp
Lod Score ロッドスコア MeSH lifesciencedb.jp
Homozygote ホモ接合体 MeSH lifesciencedb.jp
RNA Splicing RNAスプライシング MeSH lifesciencedb.jp
Species Specificity 種特異性 MeSH lifesciencedb.jp
Mosaicism モザイク現象 MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Obesity 肥満 MeSH lifesciencedb.jp
Biological Transport 生物学的輸送 MeSH lifesciencedb.jp
Body Weight 体重 MeSH lifesciencedb.jp
Body Height 身長 MeSH lifesciencedb.jp
Genetic Heterogeneity 遺伝的異質性 MeSH lifesciencedb.jp
Frameshift Mutation フレームシフト変異 MeSH lifesciencedb.jp
Repetitive Sequences, Nucleic Acid 核酸反復配列 MeSH lifesciencedb.jp
Haplotypes ハプロタイプ MeSH lifesciencedb.jp
Risk リスク 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
Phenotype 表現型 MeSH lifesciencedb.jp
Alleles 対立遺伝子 MeSH lifesciencedb.jp
Genetic Testing 遺伝学的スクリーニング MeSH lifesciencedb.jp
Polymorphism, Restriction Fragment Length 制限酵素断片長多型 MeSH lifesciencedb.jp
Consanguinity 血族 MeSH lifesciencedb.jp
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Point Mutation 点変異 MeSH lifesciencedb.jp
Exons エクソン 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
Ilium 腸骨 MeSH lifesciencedb.jp
Hip 股関節部 MeSH lifesciencedb.jp
Metacarpus 中手骨 MeSH lifesciencedb.jp
Bone and Bones MeSH lifesciencedb.jp
Humerus 上腕骨 MeSH lifesciencedb.jp
Chromosomes, Human, 16-18 ヒト第16-18染色体 MeSH lifesciencedb.jp
Neck 頸部 MeSH lifesciencedb.jp
Femur 大腿骨 MeSH lifesciencedb.jp
Leg 下腿 MeSH lifesciencedb.jp
Cartilage 軟骨 MeSH lifesciencedb.jp
Toes 足指 MeSH lifesciencedb.jp
Hand MeSH lifesciencedb.jp



Organisms

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MeSH term Japanese Link 01
Animals 動物 MeSH lifesciencedb.jp
Humans ヒト MeSH lifesciencedb.jp



Database Center for Life Science