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01 300209 - SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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 MeSH term Japanese Link 01
Hydrops Fetalis 胎児水腫 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Mental Retardation, X-Linked 精神発達遅滞-X連鎖性 MeSH lifesciencedb.jp
Spasms, Infantile けいれん-乳児 MeSH lifesciencedb.jp
Ciliary Motility Disorders 線毛運動障害 MeSH lifesciencedb.jp
Craniofacial Abnormalities 頭蓋顔面奇形 MeSH lifesciencedb.jp
Hand Deformities, Congenital 手の形態異常-先天性 MeSH lifesciencedb.jp
Diseases in Twins 双生児の疾患 MeSH lifesciencedb.jp
Disease Models, Animal 疾患モデル(動物) MeSH lifesciencedb.jp
Intellectual Disability 精神発達遅滞 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
Receptor, IGF Type 1 インスリン様成長因子I受容体 MeSH lifesciencedb.jp
Heparitin Sulfate ヘパラン硫酸 MeSH lifesciencedb.jp
Insulin-Like Growth Factor II インスリン様成長因子II MeSH lifesciencedb.jp
Proteoglycans プロテオグリカン MeSH lifesciencedb.jp
Insulin-Like Growth Factor I インスリン様成長因子I MeSH lifesciencedb.jp
DNA, Complementary 相補的DNA MeSH lifesciencedb.jp
Proteins 蛋白質 MeSH lifesciencedb.jp


Biological Phenomena

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 MeSH term Japanese Link 01
Tandem Repeat Sequences 縦列反復配列 MeSH lifesciencedb.jp
X Chromosome X染色体 MeSH lifesciencedb.jp
Frameshift Mutation フレームシフト変異 MeSH lifesciencedb.jp
Recombination, Genetic 遺伝子組換え MeSH lifesciencedb.jp
Fatal Outcome 致死的転帰 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
Gene Deletion 遺伝子欠失 MeSH lifesciencedb.jp
Genetic Variation 遺伝的多様性 MeSH lifesciencedb.jp
Lod Score ロッドスコア MeSH lifesciencedb.jp
Haplotypes ハプロタイプ MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Heterozygote ヘテロ接合体 MeSH lifesciencedb.jp
Polymorphism, Genetic 遺伝子多型 MeSH lifesciencedb.jp
Alleles 対立遺伝子 MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp
Phenotype 表現型 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
Kidney 腎臓 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
Humans ヒト MeSH lifesciencedb.jp
Mice マウス MeSH lifesciencedb.jp
Animals 動物 MeSH lifesciencedb.jp


Database Center for Life Science