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01 123000 CMDD CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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MeSH term Japanese Link 01
Bone Diseases, Developmental 骨発育異常 MeSH lifesciencedb.jp
Bone Diseases 骨疾患 MeSH lifesciencedb.jp
Facial Paralysis 顔面麻痺 MeSH lifesciencedb.jp
Chondrocalcinosis 軟骨石灰化症 MeSH lifesciencedb.jp
Hyperostosis Frontalis Interna 過骨症-前頭骨内板 MeSH lifesciencedb.jp
Osteoporosis 骨粗鬆症 MeSH lifesciencedb.jp
Hyperostosis 骨化過剰症 MeSH lifesciencedb.jp
Nerve Compression Syndromes 末梢神経圧迫症候群 MeSH lifesciencedb.jp
Ankylosis 関節強直症 MeSH lifesciencedb.jp
Sclerosis 硬化症 MeSH lifesciencedb.jp
Hearing Loss, Conductive 難聴-伝音性 MeSH lifesciencedb.jp
Spinal Cord Compression 脊髄圧迫 MeSH lifesciencedb.jp
Osteopetrosis 大理石骨病 MeSH lifesciencedb.jp
Hypertelorism 隔離症 MeSH lifesciencedb.jp
Metabolic Diseases 代謝性疾患 MeSH lifesciencedb.jp
Hearing Disorders 聴力障害 MeSH lifesciencedb.jp
Hearing Loss 難聴 MeSH lifesciencedb.jp
Craniofacial Dysostosis 頭蓋顔面異骨症 MeSH lifesciencedb.jp
Bone Resorption 骨吸収 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Congenital Abnormalities 奇形 MeSH lifesciencedb.jp
Craniofacial Abnormalities 頭蓋顔面奇形 MeSH lifesciencedb.jp
Osteochondrodysplasias 骨軟骨形成異常症 MeSH lifesciencedb.jp
Deafness MeSH lifesciencedb.jp
Translocation, Genetic 転座 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Chromosome Disorders 染色体疾患 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp



Chemicals

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MeSH term Japanese Link 01
Phosphate Transport Proteins リン酸輸送蛋白質 MeSH lifesciencedb.jp
Calcitonin カルシトニン MeSH lifesciencedb.jp
Membrane Proteins 膜蛋白質 MeSH lifesciencedb.jp
Receptors, Calcitonin カルシトニン受容体 MeSH lifesciencedb.jp
Teriparatide テリパラチド MeSH lifesciencedb.jp
Proto-Oncogene Proteins pp60(c-src) src癌原遺伝子蛋白質pp60 MeSH lifesciencedb.jp
Calcium Pyrophosphate 二リン酸カルシウム MeSH lifesciencedb.jp
Receptors, Vitronectin ビトロネクチン受容体 MeSH lifesciencedb.jp
Proton Pumps プロトンポンプ MeSH lifesciencedb.jp
LDL-Receptor Related Proteins LDL受容体関連蛋白 MeSH lifesciencedb.jp
Proton-Translocating ATPases プロトン輸送性ATPアーゼ MeSH lifesciencedb.jp
Receptors, Somatotropin 成長ホルモン受容体 MeSH lifesciencedb.jp
Macrophage Colony-Stimulating Factor マクロファージコロニー刺激因子 MeSH lifesciencedb.jp
Calcitriol カルシトリオール MeSH lifesciencedb.jp
Receptors, LDL 低密度リポ蛋白質受容体 MeSH lifesciencedb.jp
Receptors, Immunologic 免疫受容体 MeSH lifesciencedb.jp
Parathyroid Hormone 上皮小体ホルモン MeSH lifesciencedb.jp
Oligonucleotide Probes オリゴヌクレオチドプローブ MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp
Receptors, Cell Surface 細胞表面受容体 MeSH lifesciencedb.jp
Peptide Fragments ペプチド断片 MeSH lifesciencedb.jp
Interleukin-6 B細胞刺激因子2 MeSH lifesciencedb.jp
Interleukin-1 インターロイキン1 MeSH lifesciencedb.jp
Recombinant Proteins 組換え蛋白質 MeSH lifesciencedb.jp
Biological Markers 生物学的マーカー MeSH lifesciencedb.jp
RNA, Messenger メッセンジャーRNA MeSH lifesciencedb.jp



Biological Phenomena

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MeSH term Japanese Link 01
Genes, src src遺伝子 MeSH lifesciencedb.jp
Genes, Dominant 優性遺伝子 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 5 ヒト第5染色体 MeSH lifesciencedb.jp
Sequence Homology, Amino Acid アミノ酸配列相同性 MeSH lifesciencedb.jp
Lod Score ロッドスコア MeSH lifesciencedb.jp
Intracranial Pressure 頭蓋内圧 MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Recombination, Genetic 遺伝子組換え MeSH lifesciencedb.jp
Mutagenesis, Insertional 挿入型変異誘発 MeSH lifesciencedb.jp
Bone Resorption 骨吸収 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Plasmids プラスミド MeSH lifesciencedb.jp
Cell Adhesion 細胞接着 MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Exons エクソン MeSH lifesciencedb.jp
Genetic Vectors ベクター(遺伝子) MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp
Bone Density 骨密度 MeSH lifesciencedb.jp
Protein Structure, Tertiary 蛋白質三次構造 MeSH lifesciencedb.jp
Cell Differentiation 細胞分化 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Amino Acid Substitution アミノ酸置換 MeSH lifesciencedb.jp
Translocation, Genetic 転座 MeSH lifesciencedb.jp
Transfection トランスフェクション MeSH lifesciencedb.jp
Reproducibility of Results 結果再現性 MeSH lifesciencedb.jp
Genetic Variation 遺伝的多様性 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
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Homozygote ホモ接合体 MeSH lifesciencedb.jp
Base Sequence 塩基配列 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
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
Skull 頭蓋骨 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 5 ヒト第5染色体 MeSH lifesciencedb.jp
Facial Bones 顔面骨 MeSH lifesciencedb.jp
Osteoclasts 破骨細胞 MeSH lifesciencedb.jp
Bone and Bones MeSH lifesciencedb.jp
Cranial Nerves 脳神経 MeSH lifesciencedb.jp
Ear, Middle 中耳 MeSH lifesciencedb.jp
Osteoblasts 骨芽細胞 MeSH lifesciencedb.jp
Knee MeSH lifesciencedb.jp
Vacuoles 空胞 MeSH lifesciencedb.jp
Cytosol サイトゾル MeSH lifesciencedb.jp
Cervical Vertebrae 頸椎 MeSH lifesciencedb.jp
Femur 大腿骨 MeSH lifesciencedb.jp
Bone Marrow Cells 骨髄細胞 MeSH lifesciencedb.jp
Cells, Cultured 培養細胞 MeSH lifesciencedb.jp
Bone Marrow 骨髄 MeSH lifesciencedb.jp
Blood Platelets 血小板 MeSH lifesciencedb.jp



Organisms

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MeSH term Japanese Link 01
Vertebrates 脊椎動物 MeSH lifesciencedb.jp
Humans ヒト MeSH lifesciencedb.jp
Animals 動物 MeSH lifesciencedb.jp
Mice マウス MeSH lifesciencedb.jp



Database Center for Life Science