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01 223800 DMC DYGGVE-MELCHIOR-CLAUSEN DISEASE - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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 MeSH term Japanese Link 01
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Mucopolysaccharidoses ムコ多糖症 MeSH lifesciencedb.jp
Dwarfism 低身長症 MeSH lifesciencedb.jp
Osteochondrodysplasias 骨軟骨形成異常症 MeSH lifesciencedb.jp
Spinal Cord Compression 脊髄圧迫 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp
Bone Diseases, Developmental 骨発育異常 MeSH lifesciencedb.jp
Growth Disorders 成長障害 MeSH lifesciencedb.jp
Limb Deformities, Congenital 四肢奇形-先天性 MeSH lifesciencedb.jp
Scoliosis 脊柱側彎症 MeSH lifesciencedb.jp
Spinal Diseases 脊椎疾患 MeSH lifesciencedb.jp
Carbohydrate Metabolism, Inborn Errors 炭水化物代謝異常-先天性 MeSH lifesciencedb.jp
Proteinuria 蛋白尿 MeSH lifesciencedb.jp
Chromosome Disorders 染色体疾患 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp


Chemicals

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 MeSH term Japanese Link 01
Hyaluronic Acid - MeSH lifesciencedb.jp
Glycosaminoglycans グリコサミノグリカン MeSH lifesciencedb.jp
Galactosamine ガラクトサミン MeSH lifesciencedb.jp
Uronic Acids ウロン酸 MeSH lifesciencedb.jp
Adenosine Monophosphate アデニル酸 MeSH lifesciencedb.jp
Hexosamines ヘキソサミン MeSH lifesciencedb.jp
Chondro-4-Sulfatase コンドロ-4-スルファターゼ MeSH lifesciencedb.jp
Fucose デオキシガラクトース MeSH lifesciencedb.jp
Arylsulfatases アリールスルファターゼ MeSH lifesciencedb.jp
alpha-Macroglobulins アルファ-マクログロブリン MeSH lifesciencedb.jp
Amidohydrolases アミダーゼ MeSH lifesciencedb.jp
Cathepsins カテプシン MeSH lifesciencedb.jp
Sulfatases スルファターゼ MeSH lifesciencedb.jp
Pancreatic Elastase 膵臓エラスターゼ MeSH lifesciencedb.jp
alpha 1-Antitrypsin アルファ1-アンチトリプシン MeSH lifesciencedb.jp
Leucine ロイシン MeSH lifesciencedb.jp
Proteins 蛋白質 MeSH lifesciencedb.jp
Glycoproteins 糖蛋白質 MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp


Biological Phenomena

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 MeSH term Japanese Link 01
Consanguinity 血族 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 18 ヒト第18染色体 MeSH lifesciencedb.jp
Homozygote ホモ接合体 MeSH lifesciencedb.jp
Gait 歩行 MeSH lifesciencedb.jp
Evolution, Molecular 分子進化 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Phylogeny 系統発生 MeSH lifesciencedb.jp
Haplotypes ハプロタイプ MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Loss of Heterozygosity ヘテロ接合性の消失 MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Sequence Homology, Amino Acid アミノ酸配列相同性 MeSH lifesciencedb.jp
Polymorphism, Single Nucleotide 一塩基多型 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp
Alleles 対立遺伝子 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp


Anatomy

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 MeSH term Japanese Link 01
Pelvis 骨盤 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 18 ヒト第18染色体 MeSH lifesciencedb.jp
Ilium 腸骨 MeSH lifesciencedb.jp
Bone and Bones 骨 MeSH lifesciencedb.jp
Axis 第二頚椎 MeSH lifesciencedb.jp
Endoplasmic Reticulum, Rough 粗面小胞体 MeSH lifesciencedb.jp
Hand 手 MeSH lifesciencedb.jp
Growth Plate 成長板 MeSH lifesciencedb.jp
Humerus 上腕骨 MeSH lifesciencedb.jp
Extremities 四肢 MeSH lifesciencedb.jp
Cervical Vertebrae 頸椎 MeSH lifesciencedb.jp
Foot 足 MeSH lifesciencedb.jp
Femur 大腿骨 MeSH lifesciencedb.jp
Cartilage 軟骨 MeSH lifesciencedb.jp
Spine 脊柱 MeSH lifesciencedb.jp
Lysosomes リソソーム MeSH lifesciencedb.jp
Skull 頭蓋骨 MeSH lifesciencedb.jp
Leukocytes 白血球 MeSH lifesciencedb.jp
Lymphocytes リンパ球 MeSH lifesciencedb.jp
Skin 皮膚 MeSH lifesciencedb.jp
Cells, Cultured 培養細胞 MeSH lifesciencedb.jp


Organisms

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 MeSH term Japanese Link 01
Humans ヒト MeSH lifesciencedb.jp


Database Center for Life Science