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01
210710
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MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
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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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MeSH term
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01
Dwarfism
低身長症
Microcephaly
小頭症
Bone Diseases, Developmental
骨発育異常
Syndrome
症候群
Fetal Growth Retardation
胎児成長遅滞
Osteochondrodysplasias
骨軟骨形成異常症
Abnormalities, Multiple
奇形-多発
Hyperglycemia
高血糖症
Exostoses, Multiple Hereditary
骨軟骨腫-多発性遺伝性
Dislocations
脱臼
Hypotrichosis
貧毛症
Corneal Opacity
角膜混濁
Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth病
Intellectual Disability
精神発達遅滞
Birth Weight
出生体重
Genetic Diseases, Inborn
遺伝性疾患
Chromosome Disorders
染色体疾患
Chromosome Aberrations
染色体異常
Chemicals
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MeSH term
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01
DNA
デオキシリボ核酸
Biological Phenomena
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MeSH term
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01
Genes, Recessive
劣性遺伝子
Consanguinity
血族
Inbreeding
近交交配
Homozygote
ホモ接合体
Pregnancy
妊娠
Genomics
ゲノミクス
Likelihood Functions
尤度関数
Birth Weight
出生体重
Polymorphism, Restriction Fragment Length
制限酵素断片長多型
Chromosomes, Human, Pair 2
ヒト第2染色体
Chromosome Aberrations
染色体異常
Genetic Linkage
連鎖(遺伝学)
Lod Score
ロッドスコア
Anatomy
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MeSH term
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01
Face
顔面
Femur Head
大腿骨頭
Clavicle
鎖骨
Pelvic Bones
骨盤骨
Ulna
尺骨
Femur
大腿骨
Radius
橈骨
Spine
脊柱
Skull
頭蓋骨
Bone and Bones
骨
Chromosomes, Human, Pair 2
ヒト第2染色体
Brain
脳
Organisms
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MeSH term
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01
Humans
ヒト
Database Center for Life Science