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01 218400 CMDR CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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 MeSH term Japanese Link 01
Hyperostosis Frontalis Interna 過骨症-前頭骨内板 MeSH lifesciencedb.jp
Hearing Loss, Bilateral 難聴-両側性 MeSH lifesciencedb.jp
Osteosclerosis 骨硬化症 MeSH lifesciencedb.jp
Hypertelorism 隔離症 MeSH lifesciencedb.jp
Craniofacial Abnormalities 頭蓋顔面奇形 MeSH lifesciencedb.jp
Nerve Compression Syndromes 末梢神経圧迫症候群 MeSH lifesciencedb.jp
Exophthalmos 眼球突出 MeSH lifesciencedb.jp
Brain Edema 脳浮腫 MeSH lifesciencedb.jp
Bone Diseases, Developmental 骨発育異常 MeSH lifesciencedb.jp
Neurologic Manifestations 神経症状 MeSH lifesciencedb.jp
Malocclusion 不正咬合 MeSH lifesciencedb.jp
Bone Diseases 骨疾患 MeSH lifesciencedb.jp
Brain Diseases 脳疾患 MeSH lifesciencedb.jp
Osteochondrodysplasias 骨軟骨形成異常症 MeSH lifesciencedb.jp
Microcephaly 小頭症 MeSH lifesciencedb.jp
Scoliosis 脊柱側彎症 MeSH lifesciencedb.jp
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp


Chemicals

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 MeSH term Japanese Link 01
Phosphate Transport Proteins リン酸輸送蛋白質 MeSH lifesciencedb.jp
Collagen Type I コラーゲンI型 MeSH lifesciencedb.jp
Membrane Proteins 膜蛋白質 MeSH lifesciencedb.jp
Collagen 膠原 MeSH lifesciencedb.jp
RNA, Messenger メッセンジャーRNA 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
Protein Structure, Tertiary 蛋白質三次構造 MeSH lifesciencedb.jp
Bone Density 骨密度 MeSH lifesciencedb.jp
Anthropometry 身体計測 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 19 ヒト第19染色体 MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 5 ヒト第5染色体 MeSH lifesciencedb.jp
Exons エクソン MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Genetic Heterogeneity 遺伝的異質性 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 6 ヒト第6染色体 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Consanguinity 血族 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Microsatellite Repeats マイクロサテライトリピート MeSH lifesciencedb.jp
Lod Score ロッドスコア MeSH lifesciencedb.jp
Genes, Dominant 優性遺伝子 MeSH lifesciencedb.jp


Anatomy

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 MeSH term Japanese Link 01
Cytosol サイトゾル MeSH lifesciencedb.jp
Osteoblasts 骨芽細胞 MeSH lifesciencedb.jp
Frontal Bone 前頭骨 MeSH lifesciencedb.jp
Skull 頭蓋骨 MeSH lifesciencedb.jp
Foramen Magnum 大後頭孔 MeSH lifesciencedb.jp
Bone and Bones 骨 MeSH lifesciencedb.jp
Optic Nerve 視神経 MeSH lifesciencedb.jp
Cranial Fossa, Posterior 後頭蓋窩 MeSH lifesciencedb.jp
Facial Bones 顔面骨 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 19 ヒト第19染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 5 ヒト第5染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 6 ヒト第6染色体 MeSH lifesciencedb.jp
Cells, Cultured 培養細胞 MeSH lifesciencedb.jp
Face 顔面 MeSH lifesciencedb.jp


Organisms

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 MeSH term Japanese Link 01
Humans ヒト MeSH lifesciencedb.jp


Database Center for Life Science