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01 609460 - GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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MeSH term Japanese Link 01
Hirschsprung Disease Hirschsprung病 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Microcephaly 小頭症 MeSH lifesciencedb.jp
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp
Blepharoptosis 眼瞼下垂 MeSH lifesciencedb.jp
Plagiocephaly, Nonsynostotic 非骨癒合性斜頭蓋 MeSH lifesciencedb.jp
Cleft Palate 口蓋裂 MeSH lifesciencedb.jp
Foot Deformities 足の形態異常 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp
Megacolon 巨大結腸 MeSH lifesciencedb.jp
Nervous System Malformations 神経系奇形 MeSH lifesciencedb.jp
Neural Tube Defects 神経管閉鎖不全 MeSH lifesciencedb.jp
Hypertelorism 隔離症 MeSH lifesciencedb.jp
Coloboma 眼組織欠損症 MeSH lifesciencedb.jp
Muscle Hypotonia 筋緊張低下 MeSH lifesciencedb.jp
Craniofacial Abnormalities 頭蓋顔面奇形 MeSH lifesciencedb.jp
Dwarfism 低身長症 MeSH lifesciencedb.jp



Chemicals

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MeSH term Japanese Link 01
Nerve Tissue Proteins 神経組織蛋白質 MeSH lifesciencedb.jp
Receptor, Endothelin B エンドセリンB受容体 MeSH lifesciencedb.jp
Receptors, Endothelin エンドセリン受容体 MeSH lifesciencedb.jp
Codon, Nonsense ナンセンスコドン MeSH lifesciencedb.jp



Biological Phenomena

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MeSH term Japanese Link 01
Consanguinity 血族 MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 10 ヒト第10染色体 MeSH lifesciencedb.jp
Codon, Nonsense ナンセンスコドン MeSH lifesciencedb.jp
Frameshift Mutation フレームシフト変異 MeSH lifesciencedb.jp
Amino Acid Substitution アミノ酸置換 MeSH lifesciencedb.jp
Genetic Variation 遺伝的多様性 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp



Anatomy

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MeSH term Japanese Link 01
Enteric Nervous System 腸神経系 MeSH lifesciencedb.jp
Face 顔面 MeSH lifesciencedb.jp
Eyebrows MeSH lifesciencedb.jp
Iris 虹彩 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 10 ヒト第10染色体 MeSH lifesciencedb.jp
Facial Bones 顔面骨 MeSH lifesciencedb.jp
Toes 足指 MeSH lifesciencedb.jp
Fingers 手指 MeSH lifesciencedb.jp
Brain MeSH lifesciencedb.jp



Organisms

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MeSH term Japanese Link 01
Humans ヒト MeSH lifesciencedb.jp



Database Center for Life Science