OMIM → Related disease, drugs, ...
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01
212540
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CATARACT, MICROCEPHALY, FAILURE TO THRIVE, KYPHOSCOLIOSIS SYNDROME
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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
Cataract
白内障
Microcephaly
小頭症
Dwarfism
低身長症
Kyphosis
脊柱後彎症
Cockayne Syndrome
Cockayne症候群
Abnormalities, Multiple
奇形-多発
Joint Diseases
関節疾患
Intellectual Disability
精神発達遅滞
Syndrome
症候群
Infant Nutrition Disorders
乳児栄養障害
Hip Dislocation, Congenital
股関節脱臼-先天性
Xeroderma Pigmentosum
乾皮症-色素性
Trisomy
トリソミー
Demyelinating Diseases
脱髄疾患
Peripheral Nervous System Diseases
末梢神経系疾患
Fetal Diseases
胎児疾患
Osteoporosis
骨粗鬆症
Atrophy
萎縮
Growth Disorders
成長障害
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
Xeroderma Pigmentosum Group D Protein
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DNA Helicases
DNAヘリカーゼ
Transcription Factors
転写因子
DNA-Binding Proteins
DNA結合タンパク
Proteins
蛋白質
Biological Phenomena
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MeSH term
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01
Triplets
三胎
Base Pair Mismatch
ミスマッチ塩基対
DNA Replication
DNA複製
Trisomy
トリソミー
Chromosomes, Human, 6-12 and X
ヒト第6-12およびX染色体
Ultraviolet Rays
紫外線
DNA Repair
DNA修復
Mutation, Missense
ミスセンス変異
Chromosome Aberrations
染色体異常
Pregnancy
妊娠
Amino Acid Sequence
アミノ酸配列
Base Sequence
塩基配列
Anatomy
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MeSH term
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01
Cerebellar Cortex
小脳皮質
Chromosomes, Human, 6-12 and X
ヒト第6-12およびX染色体
Brain
脳
Cerebellum
小脳
Joints
関節
Cerebral Cortex
大脳皮質
Lung
肺
Organisms
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MeSH term
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01
Humans
ヒト
Database Center for Life Science