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01 213300 JBTS1 JOUBERT SYNDROME 1 - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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 MeSH term Japanese Link 01
Respiration Disorders 呼吸障害 MeSH lifesciencedb.jp
Cerebellar Ataxia 運動失調症-小脳性 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Hyperventilation 呼吸亢進 MeSH lifesciencedb.jp
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp
Dandy-Walker Syndrome Dandy-Walker症候群 MeSH lifesciencedb.jp
Ocular Motility Disorders 眼球運動障害 MeSH lifesciencedb.jp
Orofaciodigital Syndromes 口･顔･指症候群 MeSH lifesciencedb.jp
Apnea 無呼吸 MeSH lifesciencedb.jp
Kidney Diseases, Cystic 腎嚢胞 MeSH lifesciencedb.jp
Spinocerebellar Ataxias 脊髄小脳失調 MeSH lifesciencedb.jp
Cerebellar Diseases 小脳疾患 MeSH lifesciencedb.jp
Coloboma 眼組織欠損症 MeSH lifesciencedb.jp
Muscle Hypotonia 筋緊張低下 MeSH lifesciencedb.jp
Ataxia 運動失調症 MeSH lifesciencedb.jp
Hydrocephalus 水頭症 MeSH lifesciencedb.jp
Apraxias 失行症 MeSH lifesciencedb.jp
Psychomotor Disorders 精神運動障害 MeSH lifesciencedb.jp
Optic Atrophy 視神経萎縮 MeSH lifesciencedb.jp
Blindness 失明 MeSH lifesciencedb.jp
Micrognathism 小顎症 MeSH lifesciencedb.jp
Trisomy トリソミー MeSH lifesciencedb.jp
Skin Abnormalities 皮膚先天異常 MeSH lifesciencedb.jp
Chromosome Disorders 染色体疾患 MeSH lifesciencedb.jp
Kidney Diseases 腎臓疾患 MeSH lifesciencedb.jp
Brain Diseases 脳疾患 MeSH lifesciencedb.jp
Disease Progression 病勢悪化 MeSH lifesciencedb.jp
Eye Abnormalities 眼奇形 MeSH lifesciencedb.jp
Fetal Growth Retardation 胎児成長遅滞 MeSH lifesciencedb.jp
Heart Defects, Congenital 心臓疾患-先天性 MeSH lifesciencedb.jp
Translocation, Genetic 転座 MeSH lifesciencedb.jp
Diseases in Twins 双生児の疾患 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Foot Deformities, Congenital 足の形態異常-先天性 MeSH lifesciencedb.jp
Hand Deformities, Congenital 手の形態異常-先天性 MeSH lifesciencedb.jp
Retinal Diseases 網膜疾患 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Genetic Predisposition to Disease 遺伝的素因(疾患) MeSH lifesciencedb.jp
Sleep Apnea Syndromes 睡眠時無呼吸症候群 MeSH lifesciencedb.jp


Chemicals

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 MeSH term Japanese Link 01
Fibroblast Growth Factor 8 線維芽細胞増殖因子-8 MeSH lifesciencedb.jp
Antigens, Neoplasm 腫瘍抗原 MeSH lifesciencedb.jp
Fibroblast Growth Factors 線維芽細胞増殖因子 MeSH lifesciencedb.jp
Adaptor Proteins, Signal Transducing シグナルトランスダクションアダプター蛋白質 MeSH lifesciencedb.jp
DNA デオキシリボ核酸 MeSH lifesciencedb.jp
Neoplasm Proteins 腫瘍蛋白質 MeSH lifesciencedb.jp
Homeodomain Proteins ホメオドメイン蛋白質 MeSH lifesciencedb.jp
Nerve Tissue Proteins 神経組織蛋白質 MeSH lifesciencedb.jp
Proteins 蛋白質 MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp


Biological Phenomena

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 MeSH term Japanese Link 01
Eye Movements 眼球運動 MeSH lifesciencedb.jp
Auditory Perception 聴知覚 MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 9 ヒト第9染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 17 ヒト第17染色体 MeSH lifesciencedb.jp
Homozygote ホモ接合体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 11 ヒト第11染色体 MeSH lifesciencedb.jp
Evoked Potentials 誘発電位 MeSH lifesciencedb.jp
Sex Ratio 性比 MeSH lifesciencedb.jp
Trisomy トリソミー MeSH lifesciencedb.jp
Telomere テロメア MeSH lifesciencedb.jp
Pregnancy 妊娠 MeSH lifesciencedb.jp
Chromosomes, Human, X ヒトX染色体 MeSH lifesciencedb.jp
Haplotypes ハプロタイプ MeSH lifesciencedb.jp
Respiration 呼吸 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 15 ヒト第15染色体 MeSH lifesciencedb.jp
Twins, Monozygotic 一卵性双生児 MeSH lifesciencedb.jp
Genetics, Medical 医科遺伝学 MeSH lifesciencedb.jp
Body Height 身長 MeSH lifesciencedb.jp
Genetic Testing 遺伝学的スクリーニング MeSH lifesciencedb.jp
Translocation, Genetic 転座 MeSH lifesciencedb.jp
Follow-Up Studies 追跡研究 MeSH lifesciencedb.jp
Microsatellite Repeats マイクロサテライトリピート MeSH lifesciencedb.jp
Genetic Heterogeneity 遺伝的異質性 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 2 ヒト第2染色体 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Consanguinity 血族 MeSH lifesciencedb.jp
Genetic Predisposition to Disease 遺伝的素因(疾患) MeSH lifesciencedb.jp
Lod Score ロッドスコア MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp


Anatomy

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 MeSH term Japanese Link 01
Cerebellum 小脳 MeSH lifesciencedb.jp
Brain 脳 MeSH lifesciencedb.jp
Medulla Oblongata 延髄 MeSH lifesciencedb.jp
Mesencephalon 中脳 MeSH lifesciencedb.jp
Pons 橋 MeSH lifesciencedb.jp
Fourth Ventricle 第四脳室 MeSH lifesciencedb.jp
Brain Stem 脳幹 MeSH lifesciencedb.jp
Choroid 脈絡膜 MeSH lifesciencedb.jp
Retina 網膜 MeSH lifesciencedb.jp
Axons 軸索 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 9 ヒト第9染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 17 ヒト第17染色体 MeSH lifesciencedb.jp
Fingers 手指 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 11 ヒト第11染色体 MeSH lifesciencedb.jp
Telomere テロメア MeSH lifesciencedb.jp
Chromosomes, Human, X ヒトX染色体 MeSH lifesciencedb.jp
Cerebral Cortex 大脳皮質 MeSH lifesciencedb.jp
Tongue 舌 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 15 ヒト第15染色体 MeSH lifesciencedb.jp
Face 顔面 MeSH lifesciencedb.jp
Toes 足指 MeSH lifesciencedb.jp
Skull 頭蓋骨 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 2 ヒト第2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