OMIM → Related disease, drugs, ...
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01
607313
HGPPS
GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS
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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
Scoliosis
脊柱側彎症
Ocular Motility Disorders
眼球運動障害
Ophthalmoplegia
眼筋麻痺
Nystagmus, Pathologic
眼振
Syndrome
症候群
Oculomotor Nerve Diseases
動眼神経疾患
Chromosome Disorders
染色体疾患
Nervous System Malformations
神経系奇形
Thalassemia
サラセミア
Brain Diseases
脳疾患
Chromosome Aberrations
染色体異常
Disease Progression
病勢悪化
Genetic Predisposition to Disease
遺伝的素因(疾患)
Chemicals
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MeSH term
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01
Receptors, Immunologic
免疫受容体
Biological Phenomena
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01
Evoked Potentials, Motor
運動誘発電位
Morphogenesis
形態形成
Mutation
変異
Consanguinity
血族
Evoked Potentials, Somatosensory
体性感覚誘発電位
Amino Acid Motifs
アミノ酸モチーフ
Genes, Recessive
劣性遺伝子
Functional Laterality
Functional Laterality
Alternative Splicing
選択的スプライシング
Protein Structure, Tertiary
蛋白質三次構造
Chromosomes, Human, Pair 11
ヒト第11染色体
Genetic Testing
遺伝学的スクリーニング
Microsatellite Repeats
マイクロサテライトリピート
Chromosome Aberrations
染色体異常
Genetic Predisposition to Disease
遺伝的素因(疾患)
Amino Acid Sequence
アミノ酸配列
Genetic Linkage
連鎖(遺伝学)
Anatomy
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MeSH term
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01
Neural Pathways
神経経路
Brain Stem
脳幹
Rhombencephalon
菱脳
Facial Muscles
顔面筋
Medulla Oblongata
延髄
Axons
軸索
Chromosomes, Human, Pair 11
ヒト第11染色体
Organisms
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MeSH term
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01
Humans
ヒト
Database Center for Life Science