Cataract 40 (CTRCT40)

Cataract 40(来自ICD-11)

别称:

Cataract 40 with or Without Microcornea

Ctrct40

Cataract, Congenital, X-Linked

Cct

Cataract, Congenital Total, with Posterior Sutural Opacities in Heterozygotes

Congenital Total Cataract with Posterior Sutural Opacities in Heterozygotes

X-Linked Congenital Cataract

Cataract 40, X-Linked

Cataract 40 X-Linked

Cataract, Type 40

Cxn

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Cataract 40, also known as ctrct40, is related to nance-horan syndrome and congenitally corrected transposition of the great arteries. An important gene associated with Cataract 40 is NHS (NHS Actin Remodeling Regulator), and among its related pathways/superpathways are Pentose phosphate pathway and PRPP biosynthesis. Affiliated tissues include eye, and related phenotypes are severely reduced visual acuity and nuclear cataract

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