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01 267300 - RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS - 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
Deafness 聾 MeSH lifesciencedb.jp
Hearing Loss, Sensorineural 難聴-内耳性 MeSH lifesciencedb.jp
Acid-Base Imbalance 酸塩基平衡異常 MeSH lifesciencedb.jp
Nephrocalcinosis 腎石灰沈着 MeSH lifesciencedb.jp
Rickets くる病 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Osteopetrosis 大理石骨病 MeSH lifesciencedb.jp
Growth Disorders 成長障害 MeSH lifesciencedb.jp
Disease Progression 病勢悪化 MeSH lifesciencedb.jp
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp


Chemicals

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 MeSH term Japanese Link 01
Carbonic Anhydrases 炭酸アンヒドラーゼ MeSH lifesciencedb.jp
Proton-Translocating ATPases プロトン輸送性ATPアーゼ MeSH lifesciencedb.jp
Isoenzymes アイソエンザイム MeSH lifesciencedb.jp
Carbonic Anhydrase II 炭酸アンヒドラーゼII MeSH lifesciencedb.jp
Vacuolar Proton-Translocating ATPases 液胞型プロトン輸送性ATPアーゼ MeSH lifesciencedb.jp
Ammonium Chloride 塩化アンモニウム MeSH lifesciencedb.jp
Ions イオン MeSH lifesciencedb.jp
Bicarbonates 重炭酸塩 MeSH lifesciencedb.jp
Carbon Dioxide 二酸化炭素 MeSH lifesciencedb.jp
Sodium ナトリウム MeSH lifesciencedb.jp
DNA デオキシリボ核酸 MeSH lifesciencedb.jp
Transcription Factors 転写因子 MeSH lifesciencedb.jp


Biological Phenomena

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 MeSH term Japanese Link 01
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Consanguinity 血族 MeSH lifesciencedb.jp
Acid-Base Equilibrium 酸塩基平衡 MeSH lifesciencedb.jp
Hearing 聴覚 MeSH lifesciencedb.jp
Homeostasis ホメオスタシス MeSH lifesciencedb.jp
Gene Expression Regulation, Enzymologic 酵素遺伝子発現調節 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 2 ヒト第2染色体 MeSH lifesciencedb.jp
Fatal Outcome 致死的転帰 MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp
Polymorphism, Single-Stranded Conformational PCR-SSCP法 MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Polymorphism, Single Nucleotide 一塩基多型 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
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Homozygote ホモ接合体 MeSH lifesciencedb.jp
Gene Frequency 遺伝子頻度 MeSH lifesciencedb.jp
Polymorphism, Genetic 遺伝子多型 MeSH lifesciencedb.jp
Follow-Up Studies 追跡研究 MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp


Anatomy

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 MeSH term Japanese Link 01
Erythrocytes 赤血球 MeSH lifesciencedb.jp
Ear, Inner 内耳 MeSH lifesciencedb.jp
Cochlea 蝸牛 MeSH lifesciencedb.jp
Urine 尿 MeSH lifesciencedb.jp
Extracellular Matrix 細胞外基質 MeSH lifesciencedb.jp
Kidney Tubules 尿細管 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


Organisms

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 MeSH term Japanese Link 01
Animals 動物 MeSH lifesciencedb.jp
Humans ヒト MeSH lifesciencedb.jp


Database Center for Life Science