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01 308050 - CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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 MeSH term Japanese Link 01
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Ichthyosis, X-Linked 魚鱗癬-伴性遺伝性 MeSH lifesciencedb.jp
Ichthyosis 魚鱗癬 MeSH lifesciencedb.jp
Ichthyosiform Erythroderma, Congenital 魚鱗癬様紅皮症-先天性 MeSH lifesciencedb.jp
Limb Deformities, Congenital 四肢奇形-先天性 MeSH lifesciencedb.jp
Chondrodysplasia Punctata 点状軟骨異形成症 MeSH lifesciencedb.jp
Skin Abnormalities 皮膚先天異常 MeSH lifesciencedb.jp
Pigmentation Disorders 色素異常症 MeSH lifesciencedb.jp
Bone Diseases, Developmental 骨発育異常 MeSH lifesciencedb.jp
Skin Diseases 皮膚疾患 MeSH lifesciencedb.jp
Nevus, Pigmented 母斑-色素性 MeSH lifesciencedb.jp
Orofaciodigital Syndromes 口･顔･指症候群 MeSH lifesciencedb.jp
Nevus 母斑 MeSH lifesciencedb.jp
Metabolic Diseases 代謝性疾患 MeSH lifesciencedb.jp
Aneuploidy 異数性 MeSH lifesciencedb.jp
Smith-Lemli-Opitz Syndrome Smith-Lemli-Opitz症候群 MeSH lifesciencedb.jp
Lipid Metabolism, Inborn Errors 脂質代謝異常-先天性 MeSH lifesciencedb.jp
Genetic Diseases, Inborn 遺伝性疾患 MeSH lifesciencedb.jp
Sex Chromosome Aberrations 性染色体異常 MeSH lifesciencedb.jp
Metabolism, Inborn Errors 代謝異常-先天性 MeSH lifesciencedb.jp
Amino Acid Metabolism, Inborn Errors アミノ酸代謝異常-先天性 MeSH lifesciencedb.jp
Heart Defects, Congenital 心臓疾患-先天性 MeSH lifesciencedb.jp
Skin Neoplasms 皮膚腫瘍 MeSH lifesciencedb.jp
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp


Chemicals

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 MeSH term Japanese Link 01
3-Hydroxysteroid Dehydrogenases 3-ヒドロキシステロイドデヒドロゲナーゼ MeSH lifesciencedb.jp
Cholesterol コレステリン MeSH lifesciencedb.jp
Oxidoreductases Acting on CH-CH Group Donors CH-CH供与体作用群酸化還元酵素 MeSH lifesciencedb.jp
Oxidoreductases 酸化還元酵素 MeSH lifesciencedb.jp
Desmosterol デスモステロール MeSH lifesciencedb.jp
Flavin-Adenine Dinucleotide フラビン-アデニンジヌクレオチド MeSH lifesciencedb.jp
NADP ニコチンアミドアデニンジヌクレオチドリン酸 MeSH lifesciencedb.jp
Sterols ステロール MeSH lifesciencedb.jp
Ornithine Carbamoyltransferase オルニチンカルバモイルトランスフェラーゼ MeSH lifesciencedb.jp
Acyltransferases アシルトランスフェラーゼ MeSH lifesciencedb.jp
Catalase カタラーゼ MeSH lifesciencedb.jp
Nerve Tissue Proteins 神経組織蛋白質 MeSH lifesciencedb.jp
DNA デオキシリボ核酸 MeSH lifesciencedb.jp


Biological Phenomena

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 MeSH term Japanese Link 01
X Chromosome X染色体 MeSH lifesciencedb.jp
Chromatids 染色分体 MeSH lifesciencedb.jp
Aneuploidy 異数性 MeSH lifesciencedb.jp
Sex Chromosome Aberrations 性染色体異常 MeSH lifesciencedb.jp
Genetic Counseling 遺伝相談 MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Sex Factors 性因子(疫学) MeSH lifesciencedb.jp
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Point Mutation 点変異 MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Genes, Dominant 優性遺伝子 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp


Anatomy

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 MeSH term Japanese Link 01
Leg 下腿 MeSH lifesciencedb.jp
Chromatids 染色分体 MeSH lifesciencedb.jp
X Chromosome X染色体 MeSH lifesciencedb.jp
Arm 上腕 MeSH lifesciencedb.jp
Microbodies 微小体 MeSH lifesciencedb.jp
Bone and Bones 骨 MeSH lifesciencedb.jp
Kidney 腎臓 MeSH lifesciencedb.jp
Skin 皮膚 MeSH lifesciencedb.jp
Fibroblasts 線維芽細胞 MeSH lifesciencedb.jp
Brain 脳 MeSH lifesciencedb.jp
Cells, Cultured 培養細胞 MeSH lifesciencedb.jp


Organisms

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 MeSH term Japanese Link 01
Plants 植物 MeSH lifesciencedb.jp
Saccharomyces cerevisiae 酵母-パン MeSH lifesciencedb.jp
Mice マウス MeSH lifesciencedb.jp
Animals 動物 MeSH lifesciencedb.jp
Humans ヒト MeSH lifesciencedb.jp


Database Center for Life Science