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01 602722 RTADR RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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MeSH term Japanese Link 01
Acidosis, Renal Tubular アシドーシス-尿細管性 MeSH lifesciencedb.jp
Calcium Metabolism Disorders カルシウム代謝障害 MeSH lifesciencedb.jp
Nephrocalcinosis 腎石灰沈着 MeSH lifesciencedb.jp
Rickets くる病 MeSH lifesciencedb.jp
Hyperparathyroidism 上皮小体機能亢進症 MeSH lifesciencedb.jp
Hearing Loss, Sensorineural 難聴-内耳性 MeSH lifesciencedb.jp
Kidney Diseases 腎臓疾患 MeSH lifesciencedb.jp



Chemicals

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MeSH term Japanese Link 01
Proton-Translocating ATPases プロトン輸送性ATPアーゼ MeSH lifesciencedb.jp
Antiporters 対向輸送体 MeSH lifesciencedb.jp
Adenosine Triphosphatases - MeSH lifesciencedb.jp
Mitochondrial Proton-Translocating ATPases ミトコンドリアプロトン輸送性ATPアーゼ MeSH lifesciencedb.jp
Chloride-Bicarbonate Antiporters クロライド-重炭酸塩交換輸送体 MeSH lifesciencedb.jp
Pregnancy Proteins 妊娠蛋白質 MeSH lifesciencedb.jp
Suppressor Factors, Immunologic 免疫抑制因子 MeSH lifesciencedb.jp
Proton Pumps プロトンポンプ MeSH lifesciencedb.jp
Citrates クエン酸塩 MeSH lifesciencedb.jp
Anion Transport Proteins 陰イオン輸送蛋白質 MeSH lifesciencedb.jp
Protein Isoforms アイソフォーム MeSH lifesciencedb.jp
Sodium ナトリウム MeSH lifesciencedb.jp
DNA, Complementary 相補的DNA MeSH lifesciencedb.jp
Membrane Proteins 膜蛋白質 MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp
DNA デオキシリボ核酸 MeSH lifesciencedb.jp



Biological Phenomena

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MeSH term Japanese Link 01
Hearing 聴覚 MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Polymorphism, Single-Stranded Conformational PCR-SSCP法 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 7 ヒト第7染色体 MeSH lifesciencedb.jp
Consanguinity 血族 MeSH lifesciencedb.jp
Gene Expression Regulation, Enzymologic 酵素遺伝子発現調節 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Protein Biosynthesis 蛋白質生合成 MeSH lifesciencedb.jp
RNA Splicing RNAスプライシング MeSH lifesciencedb.jp
Tissue Distribution 組織内分布 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 2 ヒト第2染色体 MeSH lifesciencedb.jp
Genetics, Medical 医科遺伝学 MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Recombination, Genetic 遺伝子組換え 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
Gene Deletion 遺伝子欠失 MeSH lifesciencedb.jp
Microsatellite Repeats マイクロサテライトリピート MeSH lifesciencedb.jp
Lod Score ロッドスコア MeSH lifesciencedb.jp
Homozygote ホモ接合体 MeSH lifesciencedb.jp
Exons エクソン MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp
Genes, Dominant 優性遺伝子 MeSH lifesciencedb.jp
Polymorphism, Genetic 遺伝子多型 MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp



Anatomy

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MeSH term Japanese Link 01
Chromosomes, Human, Pair 7 ヒト第7染色体 MeSH lifesciencedb.jp
Kidney Cortex 腎皮質 MeSH lifesciencedb.jp
Ear, Inner 内耳 MeSH lifesciencedb.jp
Urine 尿 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 2 ヒト第2染色体 MeSH lifesciencedb.jp
Epithelium 上皮 MeSH lifesciencedb.jp
Kidney 腎臓 MeSH lifesciencedb.jp
Brain MeSH lifesciencedb.jp



Organisms

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MeSH term Japanese Link 01
Humans ヒト MeSH lifesciencedb.jp



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