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01 115150 - CARDIOFACIOCUTANEOUS SYNDROME - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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MeSH term Japanese Link 01
Noonan Syndrome Noonan症候群 MeSH lifesciencedb.jp
Heart Defects, Congenital 心臓疾患-先天性 MeSH lifesciencedb.jp
Skin Abnormalities 皮膚先天異常 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp
Facies 顔貌 MeSH lifesciencedb.jp
Growth Disorders 成長障害 MeSH lifesciencedb.jp
Failure to Thrive 成長不全 MeSH lifesciencedb.jp
Heart Septal Defects, Atrial 心房中隔欠損 MeSH lifesciencedb.jp
Digestive System Abnormalities 消化器系奇形 MeSH lifesciencedb.jp
Craniofacial Abnormalities 頭蓋顔面奇形 MeSH lifesciencedb.jp
Ectodermal Dysplasia 外胚葉異形成症 MeSH lifesciencedb.jp
Pulmonary Valve Stenosis 肺動脈弁狭窄症 MeSH lifesciencedb.jp
Hemangioma 血管腫 MeSH lifesciencedb.jp
Keratosis 角化症 MeSH lifesciencedb.jp
Dermatitis, Seborrheic 皮膚炎-脂漏性 MeSH lifesciencedb.jp
Dermatitis, Atopic 皮膚炎-アトピー性 MeSH lifesciencedb.jp
Lentigo ほくろ MeSH lifesciencedb.jp
Skin Diseases 皮膚疾患 MeSH lifesciencedb.jp
Mental Retardation, X-Linked 精神発達遅滞-X連鎖性 MeSH lifesciencedb.jp
Nervous System Malformations 神経系奇形 MeSH lifesciencedb.jp
Hydrops Fetalis 胎児水腫 MeSH lifesciencedb.jp
Facial Dermatoses 皮膚疾患-顔面 MeSH lifesciencedb.jp
Mitral Valve Insufficiency 僧帽弁閉鎖不全症 MeSH lifesciencedb.jp
Erythema 紅斑 MeSH lifesciencedb.jp
Precursor Cell Lymphoblastic Leukemia-Lymphoma 白血病-急性リンパ性 MeSH lifesciencedb.jp
Heart Septal Defects, Ventricular 心室中隔欠損 MeSH lifesciencedb.jp
Hair Diseases 毛髪疾患 MeSH lifesciencedb.jp
Cryptorchidism 停留精巣 MeSH lifesciencedb.jp
Neurofibromatosis 1 神経線維腫症1型 MeSH lifesciencedb.jp
Scoliosis 脊柱側彎症 MeSH lifesciencedb.jp
Splenomegaly 巨脾症 MeSH lifesciencedb.jp
Nails, Malformed 爪-変形 MeSH lifesciencedb.jp
Hematologic Diseases 血液疾患 MeSH lifesciencedb.jp
Blepharoptosis 眼瞼下垂 MeSH lifesciencedb.jp
Muscle Hypotonia 筋緊張低下 MeSH lifesciencedb.jp
Cardiomyopathy, Hypertrophic 心筋症-肥大性 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Marfan Syndrome Marfan症候群 MeSH lifesciencedb.jp
Pigmentation Disorders 色素異常症 MeSH lifesciencedb.jp
Eye Abnormalities 眼奇形 MeSH lifesciencedb.jp
Microcephaly 小頭症 MeSH lifesciencedb.jp
Nervous System Diseases 神経系疾患 MeSH lifesciencedb.jp
Neoplasms 腫瘍 MeSH lifesciencedb.jp
Diseases in Twins 双生児の疾患 MeSH lifesciencedb.jp
Skin Neoplasms 皮膚腫瘍 MeSH lifesciencedb.jp



Chemicals

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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
Proto-Oncogene Proteins B-raf B-raf癌原遺伝子蛋白質 MeSH lifesciencedb.jp
ras Proteins RAS遺伝子産物 MeSH lifesciencedb.jp
MAP Kinase Kinase 2 MAPキナーゼキナーゼ2 MeSH lifesciencedb.jp
MAP Kinase Kinase 1 MAPキナーゼキナーゼ1 MeSH lifesciencedb.jp
Protein Tyrosine Phosphatase, Non-Receptor Type 6 - MeSH lifesciencedb.jp
MAP Kinase Kinase Kinases MAPキナーゼキナーゼキナーゼ MeSH lifesciencedb.jp
Protein Phosphatase 2 - MeSH lifesciencedb.jp
Buffers 緩衝液 MeSH lifesciencedb.jp
Guanosine Triphosphate グアノシン三リン酸 MeSH lifesciencedb.jp
Extracellular Signal-Regulated MAP Kinases 細胞外シグナル調節MAPキナーゼ MeSH lifesciencedb.jp
Acyltransferases アシルトランスフェラーゼ MeSH lifesciencedb.jp
Mitogen-Activated Protein Kinases マイトジェン活性化プロテインキナーゼ MeSH lifesciencedb.jp
Proto-Oncogene Proteins 癌原遺伝子蛋白質 MeSH lifesciencedb.jp
DNA デオキシリボ核酸 MeSH lifesciencedb.jp
DNA Primers プライマー-DNA MeSH lifesciencedb.jp



Biological Phenomena

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MeSH term Japanese Link 01
Chromosomes, Human, Pair 12 ヒト第12染色体 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Skin Pigmentation 皮膚色素沈着 MeSH lifesciencedb.jp
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Polymorphism, Single-Stranded Conformational PCR-SSCP法 MeSH lifesciencedb.jp
Protein Conformation 蛋白質高次構造 MeSH lifesciencedb.jp
Genetic Heterogeneity 遺伝的異質性 MeSH lifesciencedb.jp
Germ-Line Mutation 生殖細胞系変異 MeSH lifesciencedb.jp
MAP Kinase Signaling System MAP Kinaseシグナル伝達系 MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp
Genes, ras ras遺伝子 MeSH lifesciencedb.jp
Oncogenes 癌遺伝子 MeSH lifesciencedb.jp
Temperature 温度 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Exons エクソン MeSH lifesciencedb.jp
Protein Structure, Tertiary 蛋白質三次構造 MeSH lifesciencedb.jp
Phosphorylation リン酸化 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Introns イントロン MeSH lifesciencedb.jp
Amino Acid Substitution アミノ酸置換 MeSH lifesciencedb.jp
Genes 遺伝子 MeSH lifesciencedb.jp
Sequence Homology, Amino Acid アミノ酸配列相同性 MeSH lifesciencedb.jp
Transfection トランスフェクション MeSH lifesciencedb.jp
Reproducibility of Results 結果再現性 MeSH lifesciencedb.jp
Polymorphism, Single Nucleotide 一塩基多型 MeSH lifesciencedb.jp
Genetic Variation 遺伝的多様性 MeSH lifesciencedb.jp
Lod Score ロッドスコア MeSH lifesciencedb.jp
Cohort Studies コホート研究 MeSH lifesciencedb.jp
Genes, Dominant 優性遺伝子 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Alleles 対立遺伝子 MeSH lifesciencedb.jp
Follow-Up Studies 追跡研究 MeSH lifesciencedb.jp



Anatomy

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MeSH term Japanese Link 01
Face 顔面 MeSH lifesciencedb.jp
Hair MeSH lifesciencedb.jp
Chromosomes, Human, Pair 12 ヒト第12染色体 MeSH lifesciencedb.jp
Facial Bones 顔面骨 MeSH lifesciencedb.jp
Skull 頭蓋骨 MeSH lifesciencedb.jp
Eyelids 眼瞼 MeSH lifesciencedb.jp
Fingers 手指 MeSH lifesciencedb.jp
Skin 皮膚 MeSH lifesciencedb.jp



Organisms

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MeSH term Japanese Link 01
Animals 動物 MeSH lifesciencedb.jp
Humans ヒト MeSH lifesciencedb.jp



Database Center for Life Science