Leber Congenital Amaurosis 2 (LCA2)

Leber Congenital Amaurosis 2(来自ICD-11)
别称:
Lca2
Amaurosis Congenita of Leber Ii
Amaurosis Congenita of Leber, Type 2
Leber Congenital Amaurosis, Type Ii
Leber Congenital Amaurosis Type Ii
Leber Congenital Amaurosis, Type 2
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Basic Information
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Leber Congenital Amaurosis 2, also known as lca2, is related to pathologic nystagmus and retinal disease. An important gene associated with Leber Congenital Amaurosis 2 is RPE65 (Retinoid Isomerohydrolase RPE65), and among its related pathways/superpathways are Visual phototransduction and Ciliary landscape. Affiliated tissues include retina and eye, and related phenotypes are nystagmus and reduced visual acuity
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MALACARDS
AR
Unknown
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16
145
131

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