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Ectopia lentis 2, isolated, autosomal recessive

MONDO:0009152

An isolated ectopia lentis that has material basis in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21.

Also known as: ECTOL2, ectopia lentis 2, isolated, autosomal recessive, ectopia lentis, isolated, autosomal recessive, autosomal recessive isolated ectopia lentis, autosomal recessive isolated ectopia lentis 2, ectopia lentis, isolated autosomal recessive

1 clinical trial for this condition and its sub-types.

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Broader categories

Disease (680) Hereditary disease (176) Eye disorder (102) Human disease (14) Lens disorder (12) Disorder of orbital region (3) Isolated ectopia lentis (3) Disease of genetic or genomic mechanism (2) Disorder of visual system (1) Disease by body system or component (0)
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  • AI eye chatbot matches doctors in taking patient history

    Knowledge-focused Completed

    This study tested whether a large language model (like ChatGPT) could collect medical history and suggest eye tests as well as doctors do. 172 patients with non-emergency eye problems took part. The AI's performance was compared to standard care, with senior specialists checking …

    Phase: NA • Sponsor: Zhongshan Ophthalmic Center, Sun Yat-sen University • Aim: Knowledge-focused

    Last updated Jun 27, 2026 08:10 UTC

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