Coloboma, Ocular, Autosomal Dominant (COAD)

Coloboma, Ocular, Autosomal Dominant(来自ICD-11)
别称:
Coloboma, Ocular
Coloboma of Iris, Choroid, and Retina
Coi
Chronic Obstructive Airway Disease
Coloboma of Choroid and Retina
Congenital Ocular Coloboma
Chorioretinal Coloboma
Coloboma, Uveoretinal
Uveoretinal Coloboma
Ocular Coloboma
Coad
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Coloboma, Ocular, Autosomal Dominant, also known as coloboma, ocular, is related to macs syndrome and coloboma of eye lens, and has symptoms including angina pectoris, coughing and snoring. An important gene associated with Coloboma, Ocular, Autosomal Dominant is PAX6 (Paired Box 6), and among its related pathways/superpathways are Nervous system development and Wnt / Hedgehog / Notch. The drugs Tiotropium and Nitric Oxide have been mentioned in the context of this disorder. Affiliated tissues include retina and eye, and related phenotypes are nystagmus and corneal opacity
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相关ID:
MESH:D003103
ICD11:20223105

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MALACARDS
AD
Unknown
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