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01 249700 - LANGER MESOMELIC 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
Ellis-Van Creveld Syndrome Ellis-van Creveld症候群 MeSH lifesciencedb.jp
Blepharophimosis 瞼裂縮小症 MeSH lifesciencedb.jp
Blepharoptosis 眼瞼下垂 MeSH lifesciencedb.jp
Bone Diseases 骨疾患 MeSH lifesciencedb.jp
Genetic Diseases, Inborn 遺伝性疾患 MeSH lifesciencedb.jp
Fetal Diseases 胎児疾患 MeSH lifesciencedb.jp
Bone Diseases, Developmental 骨発育異常 MeSH lifesciencedb.jp
Translocation, Genetic 転座 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp
Genetic Predisposition to Disease 遺伝的素因(疾患) MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp



Chemicals

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MeSH term Japanese Link 01
Homeodomain Proteins ホメオドメイン蛋白質 MeSH lifesciencedb.jp
Receptor, PAR-1 プロテアーゼ活性化受容体1 MeSH lifesciencedb.jp
DNA デオキシリボ核酸 MeSH lifesciencedb.jp
DNA, Complementary 相補的DNA MeSH lifesciencedb.jp
Transcription Factors 転写因子 MeSH lifesciencedb.jp



Biological Phenomena

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MeSH term Japanese Link 01
Homozygote ホモ接合体 MeSH lifesciencedb.jp
Gene Deletion 遺伝子欠失 MeSH lifesciencedb.jp
Point Mutation 点変異 MeSH lifesciencedb.jp
Genes, Homeobox ホメオボックス遺伝子 MeSH lifesciencedb.jp
Y Chromosome Y染色体 MeSH lifesciencedb.jp
Mutagenesis, Insertional 挿入型変異誘発 MeSH lifesciencedb.jp
Anthropometry 身体計測 MeSH lifesciencedb.jp
Loss of Heterozygosity ヘテロ接合性の消失 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 3 ヒト第3染色体 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Genes, Dominant 優性遺伝子 MeSH lifesciencedb.jp
Translocation, Genetic 転座 MeSH lifesciencedb.jp
Genetic Testing 遺伝学的スクリーニング MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Lod Score ロッドスコア MeSH lifesciencedb.jp
X Chromosome X染色体 MeSH lifesciencedb.jp
Heterozygote ヘテロ接合体 MeSH lifesciencedb.jp
Pregnancy 妊娠 MeSH lifesciencedb.jp
Genetic Predisposition to Disease 遺伝的素因(疾患) MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp



Anatomy

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MeSH term Japanese Link 01
Fibula 腓骨 MeSH lifesciencedb.jp
Ulna 尺骨 MeSH lifesciencedb.jp
Mandible 下顎骨 MeSH lifesciencedb.jp
Wrist 手首 MeSH lifesciencedb.jp
Forearm 前腕 MeSH lifesciencedb.jp
Y Chromosome Y染色体 MeSH lifesciencedb.jp
Arm 上腕 MeSH lifesciencedb.jp
Leg 下腿 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 3 ヒト第3染色体 MeSH lifesciencedb.jp
X Chromosome X染色体 MeSH lifesciencedb.jp



Organisms

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MeSH term Japanese Link 01
Humans ヒト MeSH lifesciencedb.jp



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