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中文Porphyria
Alias:
Hematoporphyria
Porphyrias
Disorder of Porphyrin and Heme Metabolism
Disorder of Porphyrin and Hem Metabolism
Disorders of Porphyrin Metabolism
Disorder of Porphyrin Metabolism
Porphyrin Disorder
Porphyrinopathy
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血卟啉病，又称血卟啉症，与迟发性皮肤卟啉症、Ⅰ型家族性迟发性皮肤卟啉症有关，症状包括腹痛、便秘和腹泻。与血卟啉病相关的基因包括HMBS（羟甲基bilane合成酶），其相关通路/超级通路包括无机离子/氨基酸/寡肽的代谢和运输。在该疾病的背景下提到了药物科尔斯特皮尔和铁。附属组织包括皮肤和骨髓，相关表型为减少的乳腺泡状形成和稳态/代谢
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