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01
314600
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WILDERVANCK SYNDROME
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Disease
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Chemicals
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Biological Phenomena
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Anatomy
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Organisms
Disease
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01
Klippel-Feil Syndrome
Klippel-Feil症候群
Deafness
聾
Ophthalmoplegia
眼筋麻痺
Lens Subluxation
水晶体亜脱臼
Dermoid Cyst
類皮嚢胞
Papilledema
頭蓋内圧上昇を伴う乳頭浮腫
Cranial Nerve Diseases
脳神経疾患
Spinal Dysraphism
脊髄癒合不全
Facial Paralysis
顔面麻痺
Nevus, Pigmented
母斑-色素性
Orofaciodigital Syndromes
口・顔・指症候群
Hearing Loss, Conductive
難聴-伝音性
Syndrome
症候群
Neural Tube Defects
神経管閉鎖不全
Abnormalities, Multiple
奇形-多発
Hearing Loss
難聴
Aneuploidy
異数性
Facies
顔貌
Cysts
嚢胞
Hydrocephalus
水頭症
Genetic Diseases, Inborn
遺伝性疾患
Craniosynostoses
頭蓋骨癒合症
Congenital Abnormalities
奇形
Sex Chromosome Aberrations
性染色体異常
Pigmentation Disorders
色素異常症
Skin Diseases
皮膚疾患
Amino Acid Metabolism, Inborn Errors
アミノ酸代謝異常-先天性
Chromosome Disorders
染色体疾患
Chromosome Aberrations
染色体異常
Intellectual Disability
精神発達遅滞
Chemicals
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MeSH term
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01
Ornithine Carbamoyltransferase
オルニチンカルバモイルトランスフェラーゼ
Receptor, Fibroblast Growth Factor, Type 3
線維芽細胞増殖因子受容体-3
Proline
プロリン
Receptors, Fibroblast Growth Factor
線維芽細胞増殖因子受容体
Protein-Tyrosine Kinases
Protein-Tyrosine Kinases
Arginine
アルギニン
Biological Phenomena
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MeSH term
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01
Auditory Perception
聴知覚
X Chromosome
X染色体
Aneuploidy
異数性
Sex Chromosome Aberrations
性染色体異常
Genetic Counseling
遺伝相談
Chromosome Aberrations
染色体異常
Point Mutation
点変異
Genes, Dominant
優性遺伝子
Genetic Linkage
連鎖(遺伝学)
Mutation
変異
Anatomy
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MeSH term
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01
Abducens Nerve
外転神経
Ear, Inner
内耳
Facial Nerve
顔面神経
Ear Ossicles
耳小骨
Shoulder
肩
Medulla Oblongata
延髄
Palatine Tonsil
扁桃
Thoracic Vertebrae
胸椎
Neck
頸部
Cochlea
蝸牛
Eye
眼
Cervical Vertebrae
頸椎
X Chromosome
X染色体
Spine
脊柱
Spinal Cord
脊髄
Skull
頭蓋骨
Organisms
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01
Humans
ヒト
Database Center for Life Science