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01 184250 - SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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 MeSH term Japanese Link 01
Mucopolysaccharidosis IV ムコ多糖症IV型 MeSH lifesciencedb.jp
Osteochondrodysplasias 骨軟骨形成異常症 MeSH lifesciencedb.jp
Kyphosis 脊柱後彎症 MeSH lifesciencedb.jp
Scoliosis 脊柱側彎症 MeSH lifesciencedb.jp
Malocclusion, Angle Class III 不正咬合-アングルIII級 MeSH lifesciencedb.jp
Hyperopia 遠視 MeSH lifesciencedb.jp
Dwarfism 低身長症 MeSH lifesciencedb.jp
Macroglossia 大舌症 MeSH lifesciencedb.jp
Cartilage Diseases 軟骨疾患 MeSH lifesciencedb.jp
Ossification, Heterotopic 化骨-異所性 MeSH lifesciencedb.jp
Spinal Diseases 脊椎疾患 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Bone Diseases 骨疾患 MeSH lifesciencedb.jp
Tooth Abnormalities 歯の奇形 MeSH lifesciencedb.jp
Eye Diseases 眼疾患 MeSH lifesciencedb.jp
Bone Diseases, Developmental 骨発育異常 MeSH lifesciencedb.jp
Retinal Degeneration 網膜変性症 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp


Chemicals

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 MeSH term Japanese Link 01
Collagen 膠原 MeSH lifesciencedb.jp
Cysteine システイン MeSH lifesciencedb.jp
Glycine アミノ酢酸 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
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Genes, Dominant 優性遺伝子 MeSH lifesciencedb.jp
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Open Reading Frames オープンリーディングフレーム MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Heterozygote ヘテロ接合体 MeSH lifesciencedb.jp
Body Height 身長 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Polymorphism, Restriction Fragment Length 制限酵素断片長多型 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Point Mutation 点変異 MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp


Anatomy

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 MeSH term Japanese Link 01
Leg Bones Leg Bones MeSH lifesciencedb.jp
Spine 脊柱 MeSH lifesciencedb.jp
Bones of Upper Extremity 上肢骨 MeSH lifesciencedb.jp
Pelvic Bones 骨盤骨 MeSH lifesciencedb.jp
Epiphyses 骨端 MeSH lifesciencedb.jp
Femur 大腿骨 MeSH lifesciencedb.jp
Hand 手 MeSH lifesciencedb.jp
Elbow 肘 MeSH lifesciencedb.jp
Ilium 腸骨 MeSH lifesciencedb.jp
Femur Head 大腿骨頭 MeSH lifesciencedb.jp
Carpal Bones 手根骨 MeSH lifesciencedb.jp
Pelvis 骨盤 MeSH lifesciencedb.jp
Femur Neck 大腿骨頸 MeSH lifesciencedb.jp
Leg 下腿 MeSH lifesciencedb.jp
Bone and Bones 骨 MeSH lifesciencedb.jp
Skin 皮膚 MeSH lifesciencedb.jp
Synovial Membrane 滑膜 MeSH lifesciencedb.jp


Organisms

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 MeSH term Japanese Link 01
Humans ヒト MeSH lifesciencedb.jp


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