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01 236700 MKKS MCKUSICK-KAUFMAN SYNDROME カウフマン・マキュージック症候群 OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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MeSH term Japanese Link 01
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp
Polydactyly 多指症 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Uterine Diseases 子宮疾患 MeSH lifesciencedb.jp
Heart Defects, Congenital 心臓疾患-先天性 MeSH lifesciencedb.jp
Bardet-Biedl Syndrome Bardet-Biedl症候群 MeSH lifesciencedb.jp
Vaginal Diseases 腟疾患 MeSH lifesciencedb.jp
Hamartoma 過誤腫 MeSH lifesciencedb.jp
Hypothalamic Neoplasms 視床下部腫瘍 MeSH lifesciencedb.jp
Hydronephrosis 水腎症 MeSH lifesciencedb.jp
Hypopituitarism 下垂体機能低下症 MeSH lifesciencedb.jp
Hydrocolpos 水腟症 MeSH lifesciencedb.jp
Urogenital Abnormalities 泌尿生殖器奇形 MeSH lifesciencedb.jp
Hypospadias 尿道下裂 MeSH lifesciencedb.jp
Peritoneal Diseases 腹膜疾患 MeSH lifesciencedb.jp
Cysts 嚢胞 MeSH lifesciencedb.jp
Thalamic Diseases 視床疾患 MeSH lifesciencedb.jp
Hypoglycemia 低血糖症 MeSH lifesciencedb.jp
Multiple Organ Failure 多臓器不全 MeSH lifesciencedb.jp
Obesity 肥満 MeSH lifesciencedb.jp
Tracheoesophageal Fistula 気管食道瘻 MeSH lifesciencedb.jp
Esophageal Atresia 食道閉鎖症 MeSH lifesciencedb.jp
Laurence-Moon Syndrome Laurence-Moon-Biedl症候群 MeSH lifesciencedb.jp
Tetralogy of Fallot Fallot四徴症 MeSH lifesciencedb.jp
Heart Septal Defects, Ventricular 心室中隔欠損 MeSH lifesciencedb.jp
Heart Septal Defects, Atrial 心房中隔欠損 MeSH lifesciencedb.jp
Anus, Imperforate 鎖肛 MeSH lifesciencedb.jp
Cryptorchidism 停留精巣 MeSH lifesciencedb.jp
Scoliosis 脊柱側彎症 MeSH lifesciencedb.jp
Hypertrophy 肥大 MeSH lifesciencedb.jp
Hirschsprung Disease Hirschsprung病 MeSH lifesciencedb.jp
Fetal Death 胎児死亡 MeSH lifesciencedb.jp
Down Syndrome Down症候群 MeSH lifesciencedb.jp
Retinal Diseases 網膜疾患 MeSH lifesciencedb.jp
Limb Deformities, Congenital 四肢奇形-先天性 MeSH lifesciencedb.jp
Congenital Abnormalities 奇形 MeSH lifesciencedb.jp
Ectodermal Dysplasia 外胚葉異形成症 MeSH lifesciencedb.jp
Cataract 白内障 MeSH lifesciencedb.jp
Pregnancy Complications 妊娠合併症 MeSH lifesciencedb.jp
Chromosome Disorders 染色体疾患 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 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
Chaperonins シャペロニン MeSH lifesciencedb.jp
Epidermal Growth Factor ウロガストロン MeSH lifesciencedb.jp
Cell Adhesion Molecules 細胞接着分子 MeSH lifesciencedb.jp
Extracellular Matrix Proteins 細胞外マトリックス蛋白質 MeSH lifesciencedb.jp
DNA, Complementary 相補的DNA MeSH lifesciencedb.jp
Proteins 蛋白質 MeSH lifesciencedb.jp



Biological Phenomena

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MeSH term Japanese Link 01
Consanguinity 血族 MeSH lifesciencedb.jp
Obesity 肥満 MeSH lifesciencedb.jp
Pregnancy 妊娠 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 21 ヒト第21染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 20 ヒト第20染色体 MeSH lifesciencedb.jp
Gestational Age 在胎月齢 MeSH lifesciencedb.jp
Homozygote ホモ接合体 MeSH lifesciencedb.jp
Protein Conformation 蛋白質高次構造 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 3 ヒト第3染色体 MeSH lifesciencedb.jp
Genetics, Medical 医科遺伝学 MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Genetic Counseling 遺伝相談 MeSH lifesciencedb.jp
Frameshift Mutation フレームシフト変異 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Recombination, Genetic 遺伝子組換え MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Follow-Up Studies 追跡研究 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
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Genetic Variation 遺伝的多様性 MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp
Microsatellite Repeats マイクロサテライトリピート MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) 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
Point Mutation 点変異 MeSH lifesciencedb.jp
Age of Onset 発病年齢 MeSH lifesciencedb.jp
Exons エクソン MeSH lifesciencedb.jp
Haplotypes ハプロタイプ MeSH lifesciencedb.jp
Heterozygote ヘテロ接合体 MeSH lifesciencedb.jp
Case-Control Studies 症例対照研究 MeSH lifesciencedb.jp
Alleles 対立遺伝子 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp



Anatomy

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MeSH term Japanese Link 01
Vagina MeSH lifesciencedb.jp
Uterus 子宮 MeSH lifesciencedb.jp
Fingers 手指 MeSH lifesciencedb.jp
Toes 足指 MeSH lifesciencedb.jp
Anal Canal 肛門管 MeSH lifesciencedb.jp
Urethra 尿道 MeSH lifesciencedb.jp
Fallopian Tubes 卵管(哺乳類) MeSH lifesciencedb.jp
Urinary Tract 尿路 MeSH lifesciencedb.jp
Mullerian Ducts Mueller管 MeSH lifesciencedb.jp
Metacarpus 中手骨 MeSH lifesciencedb.jp
Abdomen 腹部 MeSH lifesciencedb.jp
Pituitary Gland 下垂体 MeSH lifesciencedb.jp
Ovary 卵巣 MeSH lifesciencedb.jp
Rectum 直腸 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 21 ヒト第21染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 20 ヒト第20染色体 MeSH lifesciencedb.jp
Leg 下腿 MeSH lifesciencedb.jp
Facial Bones 顔面骨 MeSH lifesciencedb.jp
Spine 脊柱 MeSH lifesciencedb.jp
Kidney 腎臓 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 3 ヒト第3染色体 MeSH lifesciencedb.jp



Organisms

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MeSH term Japanese Link 01
Cattle ウシ MeSH lifesciencedb.jp
Animals 動物 MeSH lifesciencedb.jp
Humans ヒト MeSH lifesciencedb.jp
Mice マウス MeSH lifesciencedb.jp



Database Center for Life Science