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01 226980 - EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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MeSH term Japanese Link 01
Diabetes Mellitus, Type 1 糖尿病-1型 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp
Osteochondrodysplasias 骨軟骨形成異常症 MeSH lifesciencedb.jp
Bone Diseases, Developmental 骨発育異常 MeSH lifesciencedb.jp
Tooth Discoloration 歯牙変色 MeSH lifesciencedb.jp
Growth Disorders 成長障害 MeSH lifesciencedb.jp
Hyperglycemia 高血糖症 MeSH lifesciencedb.jp
Skin Manifestations 皮膚症状 MeSH lifesciencedb.jp
Hepatitis 肝炎 MeSH lifesciencedb.jp
腎不全 MeSH lifesciencedb.jp
Fractures, Bone 骨折 MeSH lifesciencedb.jp
Chondrodysplasia Punctata 点状軟骨異形成症 MeSH lifesciencedb.jp
Hypothyroidism 甲状腺機能低下症 MeSH lifesciencedb.jp
Bone Resorption 骨吸収 MeSH lifesciencedb.jp
Infant, Newborn, Diseases 新生児疾患 MeSH lifesciencedb.jp
Diabetes Mellitus 糖尿病 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp



Chemicals

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MeSH term Japanese Link 01
eIF-2 Kinase eIF-2キナーゼ MeSH lifesciencedb.jp
Homeodomain Proteins ホメオドメイン蛋白質 MeSH lifesciencedb.jp
DNA デオキシリボ核酸 MeSH lifesciencedb.jp
Transcription Factors 転写因子 MeSH lifesciencedb.jp
Glucokinase グルコキナーゼ MeSH lifesciencedb.jp
Paired Box Transcription Factors Paired Box Transcription Factors MeSH lifesciencedb.jp
Hepatocyte Nuclear Factor 1-beta - MeSH lifesciencedb.jp
Potassium Channels, Inwardly Rectifying 内向き整流カリウムチャネル MeSH lifesciencedb.jp
Forkhead Transcription Factors FKH遺伝子産物 MeSH lifesciencedb.jp
Codon, Nonsense ナンセンスコドン MeSH lifesciencedb.jp
Insulin インスリン MeSH lifesciencedb.jp
Trans-Activators トランスアクチベーター MeSH lifesciencedb.jp
Collagen 膠原 MeSH lifesciencedb.jp
Proteins 蛋白質 MeSH lifesciencedb.jp



Biological Phenomena

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MeSH term Japanese Link 01
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Bone Resorption 骨吸収 MeSH lifesciencedb.jp
Codon, Nonsense ナンセンスコドン MeSH lifesciencedb.jp
Chromosomes, Human, Pair 6 ヒト第6染色体 MeSH lifesciencedb.jp
Mosaicism モザイク現象 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 15 ヒト第15染色体 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Fatal Outcome 致死的転帰 MeSH lifesciencedb.jp
Sequence Homology, Amino Acid アミノ酸配列相同性 MeSH lifesciencedb.jp
Microsatellite Repeats マイクロサテライトリピート MeSH lifesciencedb.jp
Consanguinity 血族 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Gene Frequency 遺伝子頻度 MeSH lifesciencedb.jp
Exons エクソン MeSH lifesciencedb.jp
Haplotypes ハプロタイプ MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Polymorphism, Genetic 遺伝子多型 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
Epiphyses 骨端 MeSH lifesciencedb.jp
Pancreas 膵臓 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 6 ヒト第6染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 15 ヒト第15染色体 MeSH lifesciencedb.jp
Bone and Bones MeSH lifesciencedb.jp
Liver 肝臓 MeSH lifesciencedb.jp
Skin 皮膚 MeSH lifesciencedb.jp
Fibroblasts 線維芽細胞 MeSH lifesciencedb.jp
Cells, Cultured 培養細胞 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



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