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01 241410 HRD HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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MeSH term Japanese Link 01
Hypoparathyroidism 上皮小体機能低下症 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Fetal Growth Retardation 胎児成長遅滞 MeSH lifesciencedb.jp
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp
Growth Disorders 成長障害 MeSH lifesciencedb.jp
Hypocalcemia 低カルシウム血症 MeSH lifesciencedb.jp
Failure to Thrive 成長不全 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp
Microphthalmos 小眼球症 MeSH lifesciencedb.jp
Craniofacial Abnormalities 頭蓋顔面奇形 MeSH lifesciencedb.jp
Astigmatism 乱視 MeSH lifesciencedb.jp
Keratitis 角膜炎 MeSH lifesciencedb.jp
Strabismus 斜視 MeSH lifesciencedb.jp
Osteosclerosis 骨硬化症 MeSH lifesciencedb.jp
Corneal Opacity 角膜混濁 MeSH lifesciencedb.jp
Hyperparathyroidism 上皮小体機能亢進症 MeSH lifesciencedb.jp
Retinal Diseases 網膜疾患 MeSH lifesciencedb.jp
Eye Diseases 眼疾患 MeSH lifesciencedb.jp
Seizures けいれん性発作 MeSH lifesciencedb.jp
Microcephaly 小頭症 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp



Chemicals

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MeSH term Japanese Link 01
Molecular Chaperones 分子シャペロン MeSH lifesciencedb.jp
Vitamin D ビタミンD MeSH lifesciencedb.jp
Microtubule-Associated Proteins 微小管結合蛋白質 MeSH lifesciencedb.jp
Phosphates リン酸塩 MeSH lifesciencedb.jp
Insulin-Like Growth Factor I インスリン様成長因子I MeSH lifesciencedb.jp
Growth Hormone 成長ホルモン MeSH lifesciencedb.jp
Recombinant Proteins 組換え蛋白質 MeSH lifesciencedb.jp
DNA デオキシリボ核酸 MeSH lifesciencedb.jp



Biological Phenomena

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MeSH term Japanese Link 01
Consanguinity 血族 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 1 ヒト第1染色体 MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Intraocular Pressure 眼圧 MeSH lifesciencedb.jp
Lod Score ロッドスコア MeSH lifesciencedb.jp
Gene Duplication 遺伝子重複 MeSH lifesciencedb.jp
Haplotypes ハプロタイプ MeSH lifesciencedb.jp
Genome, Human ヒトゲノム MeSH lifesciencedb.jp
Tissue Distribution 組織内分布 MeSH lifesciencedb.jp
Nucleic Acid Hybridization 核酸ハイブリダイゼーション MeSH lifesciencedb.jp
Sequence Homology, Amino Acid アミノ酸配列相同性 MeSH lifesciencedb.jp
Gene Deletion 遺伝子欠失 MeSH lifesciencedb.jp
Microsatellite Repeats マイクロサテライトリピート MeSH lifesciencedb.jp
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Homozygote ホモ接合体 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp



Anatomy

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MeSH term Japanese Link 01
Chromosomes, Human, Pair 1 ヒト第1染色体 MeSH lifesciencedb.jp
Face 顔面 MeSH lifesciencedb.jp
Facial Bones 顔面骨 MeSH lifesciencedb.jp
Golgi Apparatus Golgi装置 MeSH lifesciencedb.jp
Retinal Vessels 網膜血管 MeSH lifesciencedb.jp
Skull 頭蓋骨 MeSH lifesciencedb.jp
Fibroblasts 線維芽細胞 MeSH lifesciencedb.jp
Cells, Cultured 培養細胞 MeSH lifesciencedb.jp



Organisms

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MeSH term Japanese Link 01
Humans ヒト MeSH lifesciencedb.jp



Database Center for Life Science