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01
265000
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MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT
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Disease
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Chemicals
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Biological Phenomena
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Anatomy
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Organisms
Disease
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01
Pterygium
翼状片
Arthrogryposis
関節拘縮
Abnormalities, Multiple
奇形-多発
Syndrome
症候群
Scoliosis
脊柱側彎症
Clubfoot
内反足
Blepharoptosis
眼瞼下垂
Cleft Palate
口蓋裂
Myasthenic Syndromes, Congenital
筋無力症症候群-先天性
Hip Dislocation, Congenital
股関節脱臼-先天性
Polyhydramnios
羊水過多症
Urogenital Abnormalities
泌尿生殖器奇形
Contracture
拘縮
Hearing Loss
難聴
Respiratory Insufficiency
呼吸不全
Movement Disorders
運動障害
Skin Abnormalities
皮膚先天異常
Fetal Death
胎児死亡
Ectodermal Dysplasia
外胚葉異形成症
Sex Chromosome Aberrations
性染色体異常
Cleft Lip
口唇裂
Hand Deformities, Congenital
手の形態異常-先天性
Nervous System Diseases
神経系疾患
Muscular Diseases
筋疾患
Diseases in Twins
双生児の疾患
Deafness
聾
Intellectual Disability
精神発達遅滞
Chemicals
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01
Protein Subunits
蛋白質サブユニット
Receptors, Cholinergic
アセチルコリン受容体
Biological Phenomena
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01
Pregnancy
妊娠
Muscle Development
筋形成
Body Height
身長
Consanguinity
血族
Genes, Lethal
致死遺伝子
Sex Chromosome Aberrations
性染色体異常
Genes, Recessive
劣性遺伝子
Chromosomes, Human, Pair 2
ヒト第2染色体
Phenotype
表現型
Genetic Variation
遺伝的多様性
Genes, Dominant
優性遺伝子
Follow-Up Studies
追跡研究
Amino Acid Sequence
アミノ酸配列
Anatomy
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01
Neck
頸部
Face
顔面
Elbow
肘
Abdominal Muscles
腹筋
Genitalia, Female
女性生殖器
Thorax
胸郭
Tongue
舌
Neuromuscular Junction
神経筋接合部
Extremities
四肢
Spine
脊柱
Testis
精巣
Fetus
胎児
Spinal Cord
脊髄
Chromosomes, Human, Pair 2
ヒト第2染色体
Bone and Bones
骨
Muscles
筋
Organisms
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01
Animals
動物
Humans
ヒト
Mice
マウス
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