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01 265000 - MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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MeSH term Japanese Link 01
Pterygium 翼状片 MeSH lifesciencedb.jp
Arthrogryposis 関節拘縮 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Scoliosis 脊柱側彎症 MeSH lifesciencedb.jp
Clubfoot 内反足 MeSH lifesciencedb.jp
Blepharoptosis 眼瞼下垂 MeSH lifesciencedb.jp
Cleft Palate 口蓋裂 MeSH lifesciencedb.jp
Myasthenic Syndromes, Congenital 筋無力症症候群-先天性 MeSH lifesciencedb.jp
Hip Dislocation, Congenital 股関節脱臼-先天性 MeSH lifesciencedb.jp
Polyhydramnios 羊水過多症 MeSH lifesciencedb.jp
Urogenital Abnormalities 泌尿生殖器奇形 MeSH lifesciencedb.jp
Contracture 拘縮 MeSH lifesciencedb.jp
Hearing Loss 難聴 MeSH lifesciencedb.jp
Respiratory Insufficiency 呼吸不全 MeSH lifesciencedb.jp
Movement Disorders 運動障害 MeSH lifesciencedb.jp
Skin Abnormalities 皮膚先天異常 MeSH lifesciencedb.jp
Fetal Death 胎児死亡 MeSH lifesciencedb.jp
Ectodermal Dysplasia 外胚葉異形成症 MeSH lifesciencedb.jp
Sex Chromosome Aberrations 性染色体異常 MeSH lifesciencedb.jp
Cleft Lip 口唇裂 MeSH lifesciencedb.jp
Hand Deformities, Congenital 手の形態異常-先天性 MeSH lifesciencedb.jp
Nervous System Diseases 神経系疾患 MeSH lifesciencedb.jp
Muscular Diseases 筋疾患 MeSH lifesciencedb.jp
Diseases in Twins 双生児の疾患 MeSH lifesciencedb.jp
Deafness MeSH lifesciencedb.jp
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp



Chemicals

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MeSH term Japanese Link 01
Protein Subunits 蛋白質サブユニット MeSH lifesciencedb.jp
Receptors, Cholinergic アセチルコリン受容体 MeSH lifesciencedb.jp



Biological Phenomena

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MeSH term Japanese Link 01
Pregnancy 妊娠 MeSH lifesciencedb.jp
Muscle Development 筋形成 MeSH lifesciencedb.jp
Body Height 身長 MeSH lifesciencedb.jp
Consanguinity 血族 MeSH lifesciencedb.jp
Genes, Lethal 致死遺伝子 MeSH lifesciencedb.jp
Sex Chromosome Aberrations 性染色体異常 MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 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 Variation 遺伝的多様性 MeSH lifesciencedb.jp
Genes, Dominant 優性遺伝子 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



Anatomy

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MeSH term Japanese Link 01
Neck 頸部 MeSH lifesciencedb.jp
Face 顔面 MeSH lifesciencedb.jp
Elbow MeSH lifesciencedb.jp
Abdominal Muscles 腹筋 MeSH lifesciencedb.jp
Genitalia, Female 女性生殖器 MeSH lifesciencedb.jp
Thorax 胸郭 MeSH lifesciencedb.jp
Tongue MeSH lifesciencedb.jp
Neuromuscular Junction 神経筋接合部 MeSH lifesciencedb.jp
Extremities 四肢 MeSH lifesciencedb.jp
Spine 脊柱 MeSH lifesciencedb.jp
Testis 精巣 MeSH lifesciencedb.jp
Fetus 胎児 MeSH lifesciencedb.jp
Spinal Cord 脊髄 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 2 ヒト第2染色体 MeSH lifesciencedb.jp
Bone and Bones MeSH lifesciencedb.jp
Muscles 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
Mice マウス MeSH lifesciencedb.jp



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