Choanal Atresia, Posterior (PCA)

Choanal Atresia, Posterior(来自ICD-11)
别称:
Choanal Atresia
Atresia of Nares
Congenital Stenosis of Choanae
Congenital Stenosis of Nares
Posterior Choanal Atresia
Imperforate Nares
Nasal Atresia Nos
Choanal Fusion
Pca
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Basic Information
Medical Symptom
Gene & Mutation
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References Literature
Choanal Atresia, Posterior, also known as choanal atresia, is related to burn-mckeown syndrome and mandibulofacial dysostosis, guion-almeida type. An important gene associated with Choanal Atresia, Posterior is KMT2D (Lysine Methyltransferase 2D), and among its related pathways/superpathways are Signal Transduction and S-1P Stimulated Signaling. Affiliated tissues include heart and olfactory bulb, and related phenotypes are chronic sinusitis and abnormal nasal mucus secretion
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相关ID:
MESH:C562435
ICD11:2099486655

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参考文献
MALACARDS
--
Newborn
1-5/10000
26
257
13

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