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01 608885 - CRYOHYDROCYTOSIS, STOMATIN-DEFICIENT, WITH MENTAL RETARDATION, SEIZURES, CATARACTS, AND MASSIVE HEPATOSPLENOMEGALY - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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 MeSH term Japanese Link 01
Anemia, Hemolytic, Congenital Nonspherocytic 貧血-溶血性-先天性非球状赤血球性 MeSH lifesciencedb.jp
Anemia, Hemolytic, Congenital 貧血-溶血性-先天性 MeSH lifesciencedb.jp
Hemolysis 溶血 MeSH lifesciencedb.jp
Splenomegaly 巨脾症 MeSH lifesciencedb.jp
Anemia, Hemolytic 貧血-溶血性 MeSH lifesciencedb.jp
Blepharoptosis 眼瞼下垂 MeSH lifesciencedb.jp
Ataxia 運動失調症 MeSH lifesciencedb.jp
Cataract 白内障 MeSH lifesciencedb.jp
Metabolism, Inborn Errors 代謝異常-先天性 MeSH lifesciencedb.jp
Growth Disorders 成長障害 MeSH lifesciencedb.jp
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp


Chemicals

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 MeSH term Japanese Link 01
Blood Proteins 血液蛋白質 MeSH lifesciencedb.jp
Membrane Proteins 膜蛋白質 MeSH lifesciencedb.jp
Glutathione Reductase グルタチオンレダクターゼ MeSH lifesciencedb.jp
Glucosephosphate Dehydrogenase グルコースリン酸デヒドロゲナーゼ MeSH lifesciencedb.jp
DNA, Recombinant 組換えDNA MeSH lifesciencedb.jp
Potassium カリウム MeSH lifesciencedb.jp
Sodium ナトリウム MeSH lifesciencedb.jp


Biological Phenomena

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 MeSH term Japanese Link 01
Osmosis 浸透 MeSH lifesciencedb.jp
Osmotic Fragility 浸透圧脆弱性 MeSH lifesciencedb.jp
Cell Membrane Permeability 細胞膜透過性 MeSH lifesciencedb.jp
Cold Temperature 低温 MeSH lifesciencedb.jp
Hemolysis 溶血 MeSH lifesciencedb.jp
Pathology 病理学 MeSH lifesciencedb.jp
Gene Amplification 遺伝子増幅 MeSH lifesciencedb.jp
Chromosomes, Human, X ヒトX染色体 MeSH lifesciencedb.jp
Alternative Splicing 選択的スプライシング MeSH lifesciencedb.jp
Genetics, Medical 医科遺伝学 MeSH lifesciencedb.jp
Fatal Outcome 致死的転帰 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
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp


Anatomy

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 MeSH term Japanese Link 01
Erythrocyte Membrane 赤血球膜 MeSH lifesciencedb.jp
Erythrocytes 赤血球 MeSH lifesciencedb.jp
Blood Cells 血液細胞 MeSH lifesciencedb.jp
Cerebral Ventricles 脳室 MeSH lifesciencedb.jp
Eyelids 眼瞼 MeSH lifesciencedb.jp
Chromosomes, Human, X ヒトX染色体 MeSH lifesciencedb.jp


Organisms

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 MeSH term Japanese Link 01
Humans ヒト MeSH lifesciencedb.jp


Database Center for Life Science