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01 302960 CDPX2 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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 MeSH term Japanese Link 01
Chondrodysplasia Punctata 点状軟骨異形成症 MeSH lifesciencedb.jp
Ichthyosis, X-Linked 魚鱗癬-伴性遺伝性 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Lipid Metabolism, Inborn Errors 脂質代謝異常-先天性 MeSH lifesciencedb.jp
Ichthyosis 魚鱗癬 MeSH lifesciencedb.jp
Pigmentation Disorders 色素異常症 MeSH lifesciencedb.jp
Cataract 白内障 MeSH lifesciencedb.jp
Smith-Lemli-Opitz Syndrome Smith-Lemli-Opitz症候群 MeSH lifesciencedb.jp
Skin Abnormalities 皮膚先天異常 MeSH lifesciencedb.jp
Asphyxia Neonatorum 新生児仮死 MeSH lifesciencedb.jp
Alopecia 脱毛症 MeSH lifesciencedb.jp
Obstetric Labor Complications 分娩合併症 MeSH lifesciencedb.jp
Alopecia Areata 脱毛症-円形 MeSH lifesciencedb.jp
Chondrodysplasia Punctata, Rhizomelic 点状軟骨異形成症-根性 MeSH lifesciencedb.jp
Dermatitis, Exfoliative 皮膚炎-剥脱性 MeSH lifesciencedb.jp
Ring Chromosomes 環状染色体 MeSH lifesciencedb.jp
Skin Diseases, Genetic 皮膚疾患-遺伝性 MeSH lifesciencedb.jp
Rodent Diseases げっ歯類の疾病 MeSH lifesciencedb.jp
Atrophy 萎縮 MeSH lifesciencedb.jp
Fibrosis 線維症 MeSH lifesciencedb.jp
Metabolic Diseases 代謝性疾患 MeSH lifesciencedb.jp
Incontinentia Pigmenti 色素失調症 MeSH lifesciencedb.jp
Keratosis 角化症 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp
Nails, Malformed 爪-変形 MeSH lifesciencedb.jp
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp
Fetal Death 胎児死亡 MeSH lifesciencedb.jp
Psoriasis 乾癬 MeSH lifesciencedb.jp
Limb Deformities, Congenital 四肢奇形-先天性 MeSH lifesciencedb.jp
Sex Chromosome Aberrations 性染色体異常 MeSH lifesciencedb.jp
Bone Diseases, Developmental 骨発育異常 MeSH lifesciencedb.jp
Eye Abnormalities 眼奇形 MeSH lifesciencedb.jp
Epilepsy てんかん MeSH lifesciencedb.jp
Skin Diseases 皮膚疾患 MeSH lifesciencedb.jp
Metabolism, Inborn Errors 代謝異常-先天性 MeSH lifesciencedb.jp
Osteochondrodysplasias 骨軟骨形成異常症 MeSH lifesciencedb.jp
Pregnancy Complications 妊娠合併症 MeSH lifesciencedb.jp
Translocation, Genetic 転座 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
Steroid Isomerases 3-オキソステロイドイソメラーゼ MeSH lifesciencedb.jp
Sterols ステロール MeSH lifesciencedb.jp
Cholesterol コレステリン MeSH lifesciencedb.jp
Carrier Proteins 担体蛋白質 MeSH lifesciencedb.jp
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
Oxidoreductases Acting on CH-CH Group Donors CH-CH供与体作用群酸化還元酵素 MeSH lifesciencedb.jp
Receptors, Invertebrate Peptide 無脊椎動物ペプチド受容体 MeSH lifesciencedb.jp
Desmosterol デスモステロール MeSH lifesciencedb.jp
Cholestadienols コレスタジエノール MeSH lifesciencedb.jp
Oxidoreductases 酸化還元酵素 MeSH lifesciencedb.jp
Flavin-Adenine Dinucleotide フラビン-アデニンジヌクレオチド MeSH lifesciencedb.jp
DNA デオキシリボ核酸 MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー 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
Retinal Pigments 網膜色素 MeSH lifesciencedb.jp
Arylsulfatases アリールスルファターゼ MeSH lifesciencedb.jp
Esterases エステラーゼ MeSH lifesciencedb.jp
Glucosephosphate Dehydrogenase グルコースリン酸デヒドロゲナーゼ MeSH lifesciencedb.jp
Lipase トリアシルグリセロールリパーゼ MeSH lifesciencedb.jp
Deoxyribonucleases, Type II Site-Specific 制限酵素II型 MeSH lifesciencedb.jp
Multienzyme Complexes 多酵素複合体 MeSH lifesciencedb.jp
DNA Primers プライマー-DNA MeSH lifesciencedb.jp
Keratins ケラチン MeSH lifesciencedb.jp
DNA Probes DNA遺伝子プローブ MeSH lifesciencedb.jp
Nerve Tissue Proteins 神経組織蛋白質 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
X Chromosome X染色体 MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Genes, Dominant 優性遺伝子 MeSH lifesciencedb.jp
Chromosomes, Human, X ヒトX染色体 MeSH lifesciencedb.jp
Sex Chromosomes 性染色体 MeSH lifesciencedb.jp
Mosaicism モザイク現象 MeSH lifesciencedb.jp
Dosage Compensation, Genetic 遺伝子量補正 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Embryonic and Fetal Development 胚と胎児の成長 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Ring Chromosomes 環状染色体 MeSH lifesciencedb.jp
Chromatids 染色分体 MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Amino Acid Motifs アミノ酸モチーフ MeSH lifesciencedb.jp
Child Development 小児の発達 MeSH lifesciencedb.jp
Biological Evolution 進化 MeSH lifesciencedb.jp
Mutagenesis 変異誘発 MeSH lifesciencedb.jp
Sequence Homology, Amino Acid アミノ酸配列相同性 MeSH lifesciencedb.jp
Genes, Lethal 致死遺伝子 MeSH lifesciencedb.jp
Protein Structure, Secondary 蛋白質二次構造 MeSH lifesciencedb.jp
Growth 成長 MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Conserved Sequence 保存配列 MeSH lifesciencedb.jp
Sex Characteristics 性徴 MeSH lifesciencedb.jp
Polymorphism, Restriction Fragment Length 制限酵素断片長多型 MeSH lifesciencedb.jp
Sex Chromosome Aberrations 性染色体異常 MeSH lifesciencedb.jp
Histocytochemistry 組織化学 MeSH lifesciencedb.jp
Pregnancy 妊娠 MeSH lifesciencedb.jp
Protein Conformation 蛋白質高次構造 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 9 ヒト第9染色体 MeSH lifesciencedb.jp
DNA Methylation DNAメチル化 MeSH lifesciencedb.jp
Lod Score ロッドスコア MeSH lifesciencedb.jp
Genomic Imprinting 遺伝子刷り込み MeSH lifesciencedb.jp
Chromosomes, Human, Pair 3 ヒト第3染色体 MeSH lifesciencedb.jp
Body Height 身長 MeSH lifesciencedb.jp
Point Mutation 点変異 MeSH lifesciencedb.jp
Linkage Disequilibrium 連鎖不平衡 MeSH lifesciencedb.jp
Recombination, Genetic 遺伝子組換え MeSH lifesciencedb.jp
Exons エクソン MeSH lifesciencedb.jp
Fatal Outcome 致死的転帰 MeSH lifesciencedb.jp
Haplotypes ハプロタイプ MeSH lifesciencedb.jp
Introns イントロン MeSH lifesciencedb.jp
Amino Acid Substitution アミノ酸置換 MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Translocation, Genetic 転座 MeSH lifesciencedb.jp
Heterozygote ヘテロ接合体 MeSH lifesciencedb.jp
Genes 遺伝子 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Sequence Deletion 配列欠失 MeSH lifesciencedb.jp
Genetic Variation 遺伝的多様性 MeSH lifesciencedb.jp
Sex Factors 性因子(疫学) MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Follow-Up Studies 追跡研究 MeSH lifesciencedb.jp
Alleles 対立遺伝子 MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp


Anatomy

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 MeSH term Japanese Link 01
X Chromosome X染色体 MeSH lifesciencedb.jp
Chromosomes, Human, X ヒトX染色体 MeSH lifesciencedb.jp
Sex Chromosomes 性染色体 MeSH lifesciencedb.jp
Skin 皮膚 MeSH lifesciencedb.jp
Ring Chromosomes 環状染色体 MeSH lifesciencedb.jp
Chromatids 染色分体 MeSH lifesciencedb.jp
Facial Bones 顔面骨 MeSH lifesciencedb.jp
Toes 足指 MeSH lifesciencedb.jp
COS Cells COS細胞 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 9 ヒト第9染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 3 ヒト第3染色体 MeSH lifesciencedb.jp
Skull 頭蓋骨 MeSH lifesciencedb.jp
Leukocytes, Mononuclear 単核白血球 MeSH lifesciencedb.jp
Fingers 手指 MeSH lifesciencedb.jp
Cerebral Cortex 大脳皮質 MeSH lifesciencedb.jp
Liver 肝臓 MeSH lifesciencedb.jp
Fibroblasts 線維芽細胞 MeSH lifesciencedb.jp


Organisms

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 MeSH term Japanese Link 01
Mice, Mutant Strains 変異系マウス MeSH lifesciencedb.jp
Mice マウス MeSH lifesciencedb.jp
Plants 植物 MeSH lifesciencedb.jp
Animals 動物 MeSH lifesciencedb.jp
Muridae ネズミ科 MeSH lifesciencedb.jp
Guinea Pigs モルモット MeSH lifesciencedb.jp
Saccharomyces cerevisiae 酵母-パン MeSH lifesciencedb.jp
Mice, Inbred C3H C3Hマウス MeSH lifesciencedb.jp
Mice, Inbred C57BL C57BLマウス MeSH lifesciencedb.jp
Humans ヒト MeSH lifesciencedb.jp


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