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01 309580 MRXHF1 MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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 MeSH term Japanese Link 01
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
alpha-Thalassemia サラセミア-アルファ MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp
Growth Disorders 成長障害 MeSH lifesciencedb.jp
Hypogonadism 性機能低下症 MeSH lifesciencedb.jp
Deafness 聾 MeSH lifesciencedb.jp
Thalassemia サラセミア MeSH lifesciencedb.jp
Cryptorchidism 停留精巣 MeSH lifesciencedb.jp
Genetic Diseases, Inborn 遺伝性疾患 MeSH lifesciencedb.jp
Microcephaly 小頭症 MeSH lifesciencedb.jp
Obesity 肥満 MeSH lifesciencedb.jp
Musculoskeletal Abnormalities 筋骨格系奇形 MeSH lifesciencedb.jp
Gynecomastia 女性化乳房 MeSH lifesciencedb.jp
Mental Retardation, X-Linked 精神発達遅滞-X連鎖性 MeSH lifesciencedb.jp
Clubfoot 内反足 MeSH lifesciencedb.jp
Failure to Thrive 成長不全 MeSH lifesciencedb.jp
Urogenital Abnormalities 泌尿生殖器奇形 MeSH lifesciencedb.jp
Muscle Spasticity 筋痙縮 MeSH lifesciencedb.jp
Speech Disorders 発話障害 MeSH lifesciencedb.jp
Mucopolysaccharidoses ムコ多糖症 MeSH lifesciencedb.jp
Sex Chromosome Aberrations 性染色体異常 MeSH lifesciencedb.jp
Eye Abnormalities 眼奇形 MeSH lifesciencedb.jp
Seizures けいれん性発作 MeSH lifesciencedb.jp
Hand Deformities, Congenital 手の形態異常-先天性 MeSH lifesciencedb.jp
Epilepsy てんかん MeSH lifesciencedb.jp
Dwarfism 低身長症 MeSH lifesciencedb.jp
Diseases in Twins 双生児の疾患 MeSH lifesciencedb.jp


Chemicals

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 MeSH term Japanese Link 01
DNA Helicases DNAヘリカーゼ MeSH lifesciencedb.jp
Nuclear Proteins 核内蛋白質 MeSH lifesciencedb.jp
DNA デオキシリボ核酸 MeSH lifesciencedb.jp
Hemoglobin H ヘモグロビンH MeSH lifesciencedb.jp
Chorionic Gonadotropin 絨毛性性腺刺激ホルモン MeSH lifesciencedb.jp
Chromatin クロマチン MeSH lifesciencedb.jp
RNA Splice Sites RNAスプライス部位 MeSH lifesciencedb.jp
Histones ヒストン MeSH lifesciencedb.jp
Follicle Stimulating Hormone 卵胞刺激ホルモン MeSH lifesciencedb.jp
Luteinizing Hormone 黄体形成ホルモン MeSH lifesciencedb.jp
DNA Probes DNA遺伝子プローブ MeSH lifesciencedb.jp
DNA, Complementary 相補的DNA MeSH lifesciencedb.jp
Transcription Factors 転写因子 MeSH lifesciencedb.jp
DNA Primers プライマー-DNA MeSH lifesciencedb.jp
DNA-Binding Proteins DNA結合タンパク MeSH lifesciencedb.jp


Biological Phenomena

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 MeSH term Japanese Link 01
X Chromosome X染色体 MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Body Height 身長 MeSH lifesciencedb.jp
Sex Chromosomes 性染色体 MeSH lifesciencedb.jp
Obesity 肥満 MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Molecular Conformation 分子高次構造 MeSH lifesciencedb.jp
Frameshift Mutation フレームシフト変異 MeSH lifesciencedb.jp
Point Mutation 点変異 MeSH lifesciencedb.jp
Gene Silencing 遺伝子発現停止 MeSH lifesciencedb.jp
Chromatin クロマチン MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
RNA Splice Sites RNAスプライス部位 MeSH lifesciencedb.jp
Chromosomes, Human, X ヒトX染色体 MeSH lifesciencedb.jp
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Sequence Homology, Nucleic Acid 核酸配列相同性 MeSH lifesciencedb.jp
Sex Chromosome Aberrations 性染色体異常 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Twins, Monozygotic 一卵性双生児 MeSH lifesciencedb.jp
Alternative Splicing 選択的スプライシング MeSH lifesciencedb.jp
Probability 確率 MeSH lifesciencedb.jp
Recombination, Genetic 遺伝子組換え MeSH lifesciencedb.jp
Transcription, Genetic 転写 MeSH lifesciencedb.jp
Polymorphism, Single-Stranded Conformational PCR-SSCP法 MeSH lifesciencedb.jp
Gene Expression Regulation 遺伝子発現調節 MeSH lifesciencedb.jp
Sequence Deletion 配列欠失 MeSH lifesciencedb.jp
Alleles 対立遺伝子 MeSH lifesciencedb.jp
Microsatellite Repeats マイクロサテライトリピート MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Lod Score ロッドスコア MeSH lifesciencedb.jp
Exons エクソン MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Heterozygote ヘテロ接合体 MeSH lifesciencedb.jp
Polymorphism, Genetic 遺伝子多型 MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp


Anatomy

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 MeSH term Japanese Link 01
X Chromosome X染色体 MeSH lifesciencedb.jp
Face 顔面 MeSH lifesciencedb.jp
Sex Chromosomes 性染色体 MeSH lifesciencedb.jp
Nasal Bone 鼻骨 MeSH lifesciencedb.jp
Penis 陰茎 MeSH lifesciencedb.jp
Optic Nerve 視神経 MeSH lifesciencedb.jp
Genitalia, Male 男性生殖器 MeSH lifesciencedb.jp
Chromatin クロマチン MeSH lifesciencedb.jp
Chromosomes, Human, X ヒトX染色体 MeSH lifesciencedb.jp
Facial Bones 顔面骨 MeSH lifesciencedb.jp
Testis 精巣 MeSH lifesciencedb.jp
Skull 頭蓋骨 MeSH lifesciencedb.jp
Spleen 脾臓 MeSH lifesciencedb.jp
Cerebral Cortex 大脳皮質 MeSH lifesciencedb.jp


Organisms

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 MeSH term Japanese Link 01
Humans ヒト MeSH lifesciencedb.jp


Database Center for Life Science