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中文Microphthalmia, Syndromic 9 (MCOPS9)
Alias:
Matthew-Wood Syndrome
Spear Syndrome
Microphthalmia, Isolated, with Coloboma 8
Anophthalmia/microphthalmia and Pulmonary Hypoplasia
Anophthalmia-Pulmonary Hypoplasia Syndrome
Anophthalmia, Clinical, with Mild Facial Dysmorphism and Variable Malformations of the Lung, Heart, and Diaphragm
Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect Syndrome
Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect
Pulmonary Agenesis, Microphthalmia, and Diaphragmatic Defect
Syndromic Microphthalmia 9
Pdac Syndrome
Mcops9
Pdac
Pmd
Clinical Anophthalmia Mild Facial Dysmorphism Lung Heart and Diaphragm Malformations
Pulmonary Agenesis Microphthalmi and Diaphragmatic Defect
Microphthalmia, Isolated, with Coloboma, 8
Isolated Colobomatous Microphthalmia 8
Anophthalmia with Pulmonary Hypoplasia
Anophthalmia and Pulmonary Hypoplasia
Microphthalmia Syndromic, Type 9
Microphthalmia, Syndromic, 9
Mcopcb8
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微小眼症9型，又称马修-伍德综合症，与弗林斯微小眼症综合症和微小眼症12型有关。与微小眼症9型相关的基因是STR6（视黄醇信号受体和转运蛋白STR6），其相关通路/超级通路包括信号转导和嗅觉信号通路。在该疾病的背景下，苯佐卡因和单宁酸已被提及。相关组织包括眼睛和肺，相关表型包括智力障碍和无眼症。
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MALACARDS
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