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01 610954 PTHS PITT-HOPKINS SYNDROME - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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 MeSH term Japanese Link 01
Hyperventilation 呼吸亢進 MeSH lifesciencedb.jp
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Craniofacial Abnormalities 頭蓋顔面奇形 MeSH lifesciencedb.jp
Macrostomia 大口症 MeSH lifesciencedb.jp
Osteoarthropathy, Secondary Hypertrophic 骨関節症-続発性肥大性 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Autonomic Nervous System Diseases 自律神経系疾患 MeSH lifesciencedb.jp
Muscle Hypotonia 筋緊張低下 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp
Rett Syndrome Rett症候群 MeSH lifesciencedb.jp
Epilepsy てんかん MeSH lifesciencedb.jp
Growth Disorders 成長障害 MeSH lifesciencedb.jp


Chemicals

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 MeSH term Japanese Link 01
TCF Transcription Factors T細胞因子 MeSH lifesciencedb.jp


Biological Phenomena

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 MeSH term Japanese Link 01
Chromosomes, Human, Pair 18 ヒト第18染色体 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Helix-Loop-Helix Motifs ヘリックス-ループ-ヘリックスモチーフ MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Sequence Homology, Amino Acid アミノ酸配列相同性 MeSH lifesciencedb.jp
Transfection トランスフェクション MeSH lifesciencedb.jp
Polymorphism, Single Nucleotide 一塩基多型 MeSH lifesciencedb.jp
Haplotypes ハプロタイプ MeSH lifesciencedb.jp
Genes, Dominant 優性遺伝子 MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp


Anatomy

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 MeSH term Japanese Link 01
Chromosomes, Human, Pair 18 ヒト第18染色体 MeSH lifesciencedb.jp
Nose 鼻 MeSH lifesciencedb.jp
Face 顔面 MeSH lifesciencedb.jp
Cell Line 細胞系 MeSH lifesciencedb.jp


Organisms

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 MeSH term Japanese Link 01
Humans ヒト MeSH lifesciencedb.jp


Database Center for Life Science