Gendoo

OMIM → Related disease, drugs, ...


Query OMIM entry list

01 163950 NS1 NOONAN SYNDROME 1 ヌーナン症候群 OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

Tree View


MeSH term Japanese Link 01
Noonan Syndrome Noonan症候群 MeSH lifesciencedb.jp
Turner Syndrome Turner症候群 MeSH lifesciencedb.jp
LEOPARD Syndrome LEOPARD症候群 MeSH lifesciencedb.jp
Heart Defects, Congenital 心臓疾患-先天性 MeSH lifesciencedb.jp
Pulmonary Valve Stenosis 肺動脈弁狭窄症 MeSH lifesciencedb.jp
Factor XI Deficiency 血液凝固第XI因子欠乏症 MeSH lifesciencedb.jp
Growth Disorders 成長障害 MeSH lifesciencedb.jp
Arnold-Chiari Malformation Arnold-Chiari奇形 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp
Skin Abnormalities 皮膚先天異常 MeSH lifesciencedb.jp
Lymphedema リンパ浮腫 MeSH lifesciencedb.jp
Lymphangioma リンパ管腫 MeSH lifesciencedb.jp
Blood Coagulation Disorders 血液凝固異常 MeSH lifesciencedb.jp
Cryptorchidism 停留精巣 MeSH lifesciencedb.jp
Neurofibromatosis 1 神経線維腫症1型 MeSH lifesciencedb.jp
Aortic Coarctation 大動脈縮窄症 MeSH lifesciencedb.jp
Puberty, Delayed 思春期遅発症 MeSH lifesciencedb.jp
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp
Lentigo ほくろ MeSH lifesciencedb.jp
Cardiomyopathy, Hypertrophic 心筋症-肥大性 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Lymphangiectasis リンパ管拡張症 MeSH lifesciencedb.jp
Hypertelorism 隔離症 MeSH lifesciencedb.jp
Folliculitis 毛包炎 MeSH lifesciencedb.jp
Birth Weight 出生体重 MeSH lifesciencedb.jp
Fetal Alcohol Syndrome 胎児性アルコール症候群 MeSH lifesciencedb.jp
Syringomyelia 脊髄空洞症 MeSH lifesciencedb.jp
Neoplasm Regression, Spontaneous 腫瘍退行-自然 MeSH lifesciencedb.jp
Menopause, Premature 閉経-早発 MeSH lifesciencedb.jp
Oral Manifestations 口腔症状 MeSH lifesciencedb.jp
Eunuchism 宦官症 MeSH lifesciencedb.jp
Factor XII Deficiency 血液凝固第XII因子欠乏症 MeSH lifesciencedb.jp
Fragile X Syndrome 脆弱X症候群 MeSH lifesciencedb.jp
Chylothorax 乳び胸 MeSH lifesciencedb.jp
Rubella 風疹 MeSH lifesciencedb.jp
Anorexia 食欲不振 MeSH lifesciencedb.jp
Menstruation Disturbances 月経異常 MeSH lifesciencedb.jp
Cafe-au-Lait Spots カフェオレ斑 MeSH lifesciencedb.jp
Cardiomyopathies 心筋疾患 MeSH lifesciencedb.jp
Refractive Errors 屈折異常 MeSH lifesciencedb.jp
Leukemia, Myelomonocytic, Acute 白血病-急性骨髄単球性 MeSH lifesciencedb.jp
Oculocerebrorenal Syndrome Lowe症候群 MeSH lifesciencedb.jp
Gonadal Dysgenesis, 46,XY 性器発育異常-46XY MeSH lifesciencedb.jp
Gastroesophageal Reflux 胃食道逆流 MeSH lifesciencedb.jp
Gonadal Dysgenesis 性器発育異常 MeSH lifesciencedb.jp
Hand Deformities 手の形態異常 MeSH lifesciencedb.jp
Tetralogy of Fallot Fallot四徴症 MeSH lifesciencedb.jp
Neurilemmoma 神経鞘腫 MeSH lifesciencedb.jp
Eye Manifestations 眼症状 MeSH lifesciencedb.jp
Polyhydramnios 羊水過多症 MeSH lifesciencedb.jp
Skin Manifestations 皮膚症状 MeSH lifesciencedb.jp
Mental Retardation, X-Linked 精神発達遅滞-X連鎖性 MeSH lifesciencedb.jp
Optic Nerve Diseases 視神経疾患 MeSH lifesciencedb.jp
Sclerosis 硬化症 MeSH lifesciencedb.jp
Facial Dermatoses 皮膚疾患-顔面 MeSH lifesciencedb.jp
Dilatation, Pathologic 病的拡張症 MeSH lifesciencedb.jp
Kyphosis 脊柱後彎症 MeSH lifesciencedb.jp
Strabismus 斜視 MeSH lifesciencedb.jp
Hemorrhagic Disorders 出血性疾患 MeSH lifesciencedb.jp
Primary Ovarian Insufficiency 卵巣不全-早期 MeSH lifesciencedb.jp
Micrognathism 小顎症 MeSH lifesciencedb.jp
Amenorrhea 無月経 MeSH lifesciencedb.jp
Chromosome Disorders 染色体疾患 MeSH lifesciencedb.jp
Uniparental Disomy 片親性ダイソミー MeSH lifesciencedb.jp
Hemophilia A 血友病A MeSH lifesciencedb.jp
Leukemia, Myelomonocytic, Chronic 白血病-慢性骨髄単球性 MeSH lifesciencedb.jp
Failure to Thrive 成長不全 MeSH lifesciencedb.jp
Precursor Cell Lymphoblastic Leukemia-Lymphoma 白血病-急性リンパ性 MeSH lifesciencedb.jp
Malignant Hyperthermia 悪性高熱 MeSH lifesciencedb.jp
Gigantism 巨人症 MeSH lifesciencedb.jp
Leukemia, Myeloid, Acute 白血病-急性骨髄性 MeSH lifesciencedb.jp
Heart Septal Defects, Ventricular 心室中隔欠損 MeSH lifesciencedb.jp
Urogenital Abnormalities 泌尿生殖器奇形 MeSH lifesciencedb.jp
Oligospermia 精液過少症 MeSH lifesciencedb.jp
Learning Disorders 学習障害 MeSH lifesciencedb.jp
Heart Valve Diseases 心臓弁膜症 MeSH lifesciencedb.jp
Myelodysplastic Syndromes 骨髄異形成症候群 MeSH lifesciencedb.jp
Thyroiditis, Autoimmune 甲状腺炎-自己免疫性 MeSH lifesciencedb.jp
Hereditary Sensory and Motor Neuropathy 遺伝性運動感覚性ニューロパシー MeSH lifesciencedb.jp
Acrocephalosyndactylia 尖頭合指症 MeSH lifesciencedb.jp
Heart Failure Heart Failure MeSH lifesciencedb.jp
Thrombocytopenia 血小板減少症 MeSH lifesciencedb.jp
Splenomegaly 巨脾症 MeSH lifesciencedb.jp
Facies 顔貌 MeSH lifesciencedb.jp
Pregnancy Complications 妊娠合併症 MeSH lifesciencedb.jp
Edema 浮腫 MeSH lifesciencedb.jp
Abortion, Spontaneous 流産 MeSH lifesciencedb.jp
Hematologic Diseases 血液疾患 MeSH lifesciencedb.jp
Craniofacial Dysostosis 頭蓋顔面異骨症 MeSH lifesciencedb.jp
Leukemia 白血病 MeSH lifesciencedb.jp
Infertility, Male 不妊症-男性 MeSH lifesciencedb.jp
Arthrogryposis 関節拘縮 MeSH lifesciencedb.jp
Hemorrhage 出血 MeSH lifesciencedb.jp
Infant, Newborn, Diseases 新生児疾患 MeSH lifesciencedb.jp
Tooth Abnormalities 歯の奇形 MeSH lifesciencedb.jp
Cardiovascular Diseases 心臓血管疾患 MeSH lifesciencedb.jp
Foot Deformities, Congenital 足の形態異常-先天性 MeSH lifesciencedb.jp
Hypogonadism 性機能低下症 MeSH lifesciencedb.jp
Congenital Abnormalities 奇形 MeSH lifesciencedb.jp
Retinitis Pigmentosa 網膜色素変性症 MeSH lifesciencedb.jp
Fetal Diseases 胎児疾患 MeSH lifesciencedb.jp
Sex Chromosome Aberrations 性染色体異常 MeSH lifesciencedb.jp
Eye Diseases 眼疾患 MeSH lifesciencedb.jp
Marfan Syndrome Marfan症候群 MeSH lifesciencedb.jp
Cleft Lip 口唇裂 MeSH lifesciencedb.jp
Hand Deformities, Congenital 手の形態異常-先天性 MeSH lifesciencedb.jp
Body Weight 体重 MeSH lifesciencedb.jp
Epilepsy てんかん MeSH lifesciencedb.jp
Genetic Predisposition to Disease 遺伝的素因(疾患) MeSH lifesciencedb.jp
Neoplasms 腫瘍 MeSH lifesciencedb.jp
Dwarfism 低身長症 MeSH lifesciencedb.jp
Cleft Palate 口蓋裂 MeSH lifesciencedb.jp
Skin Neoplasms 皮膚腫瘍 MeSH lifesciencedb.jp
Muscular Dystrophies 筋ジストロフィー MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Disease Models, Animal 疾患モデル(動物) MeSH lifesciencedb.jp
Chronic Disease 慢性疾患 MeSH lifesciencedb.jp



Chemicals

Tree View


MeSH term Japanese Link 01
Protein Tyrosine Phosphatase, Non-Receptor Type 11 - MeSH lifesciencedb.jp
Protein Tyrosine Phosphatases チロシンホスファターゼ MeSH lifesciencedb.jp
Intracellular Signaling Peptides and Proteins 細胞内シグナルペプチドと蛋白質 MeSH lifesciencedb.jp
Protein Phosphatase 2 - MeSH lifesciencedb.jp
SOS1 Protein SOS1蛋白質 MeSH lifesciencedb.jp
Human Growth Hormone ヒト成長ホルモン MeSH lifesciencedb.jp
Insulin-Like Growth Factor I インスリン様成長因子I MeSH lifesciencedb.jp
Insulin-Like Growth Factor Binding Protein 3 インスリン様成長因子結合蛋白質3 MeSH lifesciencedb.jp
ras Proteins RAS遺伝子産物 MeSH lifesciencedb.jp
Growth Hormone 成長ホルモン MeSH lifesciencedb.jp
SH2 Domain-Containing Protein Tyrosine Phosphatases - MeSH lifesciencedb.jp
Protein Tyrosine Phosphatase, Non-Receptor Type 6 - MeSH lifesciencedb.jp
Cardiac Myosins 心臓ミオシン MeSH lifesciencedb.jp
Vanilmandelic Acid バニルマンデル酸 MeSH lifesciencedb.jp
Myosin Light Chains ミオシンL鎖 MeSH lifesciencedb.jp
Follicle Stimulating Hormone 卵胞刺激ホルモン MeSH lifesciencedb.jp
Buffers 緩衝液 MeSH lifesciencedb.jp
Proto-Oncogene Proteins p21(ras) ras癌原遺伝子蛋白質p21 MeSH lifesciencedb.jp
Guanosine Triphosphate グアノシン三リン酸 MeSH lifesciencedb.jp
Barium Sulfate 硫酸バリウム MeSH lifesciencedb.jp
Homovanillic Acid ホモバニリン酸 MeSH lifesciencedb.jp
Proto-Oncogene Proteins B-raf B-raf癌原遺伝子蛋白質 MeSH lifesciencedb.jp
Mitogen-Activated Protein Kinase 3 MAPキナーゼ3 MeSH lifesciencedb.jp
Mitogen-Activated Protein Kinase 1 マイトジェン活性化プロテインキナーゼ1 MeSH lifesciencedb.jp
DNA デオキシリボ核酸 MeSH lifesciencedb.jp
Guanine Nucleotide Exchange Factors グアニンヌクレオチド交換因子 MeSH lifesciencedb.jp
Receptors, Calcitriol カルシトリオール受容体 MeSH lifesciencedb.jp
Contrast Media 造影剤 MeSH lifesciencedb.jp
Acyltransferases アシルトランスフェラーゼ MeSH lifesciencedb.jp
Growth Substances 成長因子 MeSH lifesciencedb.jp
Ribosomal Proteins リボソーム蛋白質 MeSH lifesciencedb.jp
Proteoglycans プロテオグリカン MeSH lifesciencedb.jp
Luteinizing Hormone 黄体形成ホルモン MeSH lifesciencedb.jp
Alkaline Phosphatase アルカリ性ホスファターゼ MeSH lifesciencedb.jp
Testosterone テストステロン MeSH lifesciencedb.jp
Adaptor Proteins, Signal Transducing シグナルトランスダクションアダプター蛋白質 MeSH lifesciencedb.jp
Phosphoproteins リン蛋白質 MeSH lifesciencedb.jp
Extracellular Matrix Proteins 細胞外マトリックス蛋白質 MeSH lifesciencedb.jp
Proteins 蛋白質 MeSH lifesciencedb.jp
Proto-Oncogene Proteins 癌原遺伝子蛋白質 MeSH lifesciencedb.jp
Glycoproteins 糖蛋白質 MeSH lifesciencedb.jp
Carrier Proteins 担体蛋白質 MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp



Biological Phenomena

Tree View


MeSH term Japanese Link 01
Body Height 身長 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 12 ヒト第12染色体 MeSH lifesciencedb.jp
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Genes, Neurofibromatosis 1 神経線維腫症1型遺伝子 MeSH lifesciencedb.jp
Growth 成長 MeSH lifesciencedb.jp
Germ-Line Mutation 生殖細胞系変異 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 22 ヒト第22染色体 MeSH lifesciencedb.jp
Sex Chromosomes 性染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 17 ヒト第17染色体 MeSH lifesciencedb.jp
Cephalometry 頭部計測法 MeSH lifesciencedb.jp
Protein Conformation 蛋白質高次構造 MeSH lifesciencedb.jp
Birth Weight 出生体重 MeSH lifesciencedb.jp
Neoplasm Regression, Spontaneous 腫瘍退行-自然 MeSH lifesciencedb.jp
Menopause, Premature 閉経-早発 MeSH lifesciencedb.jp
Polymorphism, Single-Stranded Conformational PCR-SSCP法 MeSH lifesciencedb.jp
Sex Factors 性因子(疫学) MeSH lifesciencedb.jp
Protein Structure, Tertiary 蛋白質三次構造 MeSH lifesciencedb.jp
Sex Chromatin 性クロマチン MeSH lifesciencedb.jp
Gastrointestinal Motility 胃腸運動 MeSH lifesciencedb.jp
Polyploidy 多倍数性 MeSH lifesciencedb.jp
Sex Characteristics 性徴 MeSH lifesciencedb.jp
Pregnancy Trimester, Third 妊娠後期 MeSH lifesciencedb.jp
Genetic Variation 遺伝的多様性 MeSH lifesciencedb.jp
Exons エクソン MeSH lifesciencedb.jp
src Homology Domains src相同ドメイン MeSH lifesciencedb.jp
Genes, Neurofibromatosis 2 神経線維腫症2型遺伝子 MeSH lifesciencedb.jp
Hemostasis 生理的止血 MeSH lifesciencedb.jp
Catalytic Domain 触媒ドメイン MeSH lifesciencedb.jp
Amino Acid Substitution アミノ酸置換 MeSH lifesciencedb.jp
Discriminant Analysis 判別分析 MeSH lifesciencedb.jp
Partial Thromboplastin Time 部分トロンボプラスチン時間 MeSH lifesciencedb.jp
MAP Kinase Signaling System MAP Kinaseシグナル伝達系 MeSH lifesciencedb.jp
Stimulation, Chemical 化学的刺激 MeSH lifesciencedb.jp
Uniparental Disomy 片親性ダイソミー MeSH lifesciencedb.jp
Genetics, Medical 医科遺伝学 MeSH lifesciencedb.jp
Pregnancy 妊娠 MeSH lifesciencedb.jp
Cytogenetics 細胞遺伝学 MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp
Menopause 閉経 MeSH lifesciencedb.jp
Gene Silencing 遺伝子発現停止 MeSH lifesciencedb.jp
Genetic Heterogeneity 遺伝的異質性 MeSH lifesciencedb.jp
Puberty 思春期 MeSH lifesciencedb.jp
Hemodynamics 血流力学的過程 MeSH lifesciencedb.jp
Heterozygote ヘテロ接合体 MeSH lifesciencedb.jp
Genes, ras ras遺伝子 MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Twins, Dizygotic 二卵性双生児 MeSH lifesciencedb.jp
Temperature 温度 MeSH lifesciencedb.jp
Gene Expression Regulation, Enzymologic 酵素遺伝子発現調節 MeSH lifesciencedb.jp
Anthropometry 身体計測 MeSH lifesciencedb.jp
Chromosomes 染色体 MeSH lifesciencedb.jp
Genes, Dominant 優性遺伝子 MeSH lifesciencedb.jp
Gene Expression Regulation, Developmental 発生遺伝子発現調節 MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Pregnancy Outcome 妊娠転帰 MeSH lifesciencedb.jp
Transfection トランスフェクション MeSH lifesciencedb.jp
Drug Resistance 薬剤耐性 MeSH lifesciencedb.jp
Sex Chromosome Aberrations 性染色体異常 MeSH lifesciencedb.jp
Alleles 対立遺伝子 MeSH lifesciencedb.jp
Polymorphism, Single Nucleotide 一塩基多型 MeSH lifesciencedb.jp
Genome, Human ヒトゲノム MeSH lifesciencedb.jp
Genomic Imprinting 遺伝子刷り込み MeSH lifesciencedb.jp
Genetic Testing 遺伝学的スクリーニング MeSH lifesciencedb.jp
Body Weight 体重 MeSH lifesciencedb.jp
Multivariate Analysis 多変量解析 MeSH lifesciencedb.jp
Case-Control Studies 症例対照研究 MeSH lifesciencedb.jp
Genetic Predisposition to Disease 遺伝的素因(疾患) MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Platelet Count 血小板計数 MeSH lifesciencedb.jp
Repetitive Sequences, Nucleic Acid 核酸反復配列 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 15 ヒト第15染色体 MeSH lifesciencedb.jp
Cohort Studies コホート研究 MeSH lifesciencedb.jp
Risk Assessment リスク評価 MeSH lifesciencedb.jp
Aging 加齢 MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp
Introns イントロン MeSH lifesciencedb.jp
Sequence Homology, Amino Acid アミノ酸配列相同性 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Lod Score ロッドスコア MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Point Mutation 点変異 MeSH lifesciencedb.jp
X Chromosome X染色体 MeSH lifesciencedb.jp
Age Factors 年齢因子 MeSH lifesciencedb.jp
Haplotypes ハプロタイプ MeSH lifesciencedb.jp
Retrospective Studies 後向き研究 MeSH lifesciencedb.jp
Polymorphism, Genetic 遺伝子多型 MeSH lifesciencedb.jp
Questionnaires アンケート MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Consanguinity 血族 MeSH lifesciencedb.jp
Prospective Studies 前向き研究 MeSH lifesciencedb.jp
Homozygote ホモ接合体 MeSH lifesciencedb.jp
Gene Deletion 遺伝子欠失 MeSH lifesciencedb.jp
Follow-Up Studies 追跡研究 MeSH lifesciencedb.jp
Sequence Deletion 配列欠失 MeSH lifesciencedb.jp
Incidence 発生率 MeSH lifesciencedb.jp
Polymorphism, Restriction Fragment Length 制限酵素断片長多型 MeSH lifesciencedb.jp



Anatomy

Tree View


MeSH term Japanese Link 01
Chromosomes, Human, Pair 12 ヒト第12染色体 MeSH lifesciencedb.jp
Face 顔面 MeSH lifesciencedb.jp
Neck 頸部 MeSH lifesciencedb.jp
Pulmonary Valve 肺動脈弁 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 22 ヒト第22染色体 MeSH lifesciencedb.jp
Sex Chromosomes 性染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 17 ヒト第17染色体 MeSH lifesciencedb.jp
Thorax 胸郭 MeSH lifesciencedb.jp
Oogonia 卵祖細胞 MeSH lifesciencedb.jp
Genitalia, Male 男性生殖器 MeSH lifesciencedb.jp
Eyelids 眼瞼 MeSH lifesciencedb.jp
Sex Chromatin 性クロマチン MeSH lifesciencedb.jp
Myocytes, Cardiac 心筋細胞 MeSH lifesciencedb.jp
Femoral Artery 大腿動脈 MeSH lifesciencedb.jp
Lymphatic System リンパ系 MeSH lifesciencedb.jp
Anterior Eye Segment 眼球前部 MeSH lifesciencedb.jp
COS Cells COS細胞 MeSH lifesciencedb.jp
Hair MeSH lifesciencedb.jp
Metacarpus 中手骨 MeSH lifesciencedb.jp
Skin 皮膚 MeSH lifesciencedb.jp
Stomach MeSH lifesciencedb.jp
Metacarpophalangeal Joint 中手指節関節 MeSH lifesciencedb.jp
Pulmonary Artery 肺動脈 MeSH lifesciencedb.jp
Fingers 手指 MeSH lifesciencedb.jp
Cerebral Ventricles 脳室 MeSH lifesciencedb.jp
Ovary 卵巣 MeSH lifesciencedb.jp
Hypothalamo-Hypophyseal System 視床下部-下垂体系 MeSH lifesciencedb.jp
Heart Ventricles 右心室 MeSH lifesciencedb.jp
Corpus Callosum 脳梁 MeSH lifesciencedb.jp
Duodenum 十二指腸 MeSH lifesciencedb.jp
Cornea 角膜 MeSH lifesciencedb.jp
Chromosomes 染色体 MeSH lifesciencedb.jp
Facial Bones 顔面骨 MeSH lifesciencedb.jp
Testis 精巣 MeSH lifesciencedb.jp
Myocardium 心筋 MeSH lifesciencedb.jp
Bone Marrow 骨髄 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 15 ヒト第15染色体 MeSH lifesciencedb.jp
Bone and Bones MeSH lifesciencedb.jp
Lung MeSH lifesciencedb.jp
Cell Line 細胞系 MeSH lifesciencedb.jp
Brain MeSH lifesciencedb.jp
X Chromosome X染色体 MeSH lifesciencedb.jp



Organisms

Tree View


MeSH term Japanese Link 01
Animals 動物 MeSH lifesciencedb.jp
Mice マウス MeSH lifesciencedb.jp
Humans ヒト MeSH lifesciencedb.jp
Cercopithecus aethiops ミドリザル MeSH lifesciencedb.jp
Mice, Transgenic トランスジェニックマウス MeSH lifesciencedb.jp



Database Center for Life Science