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Disease Ontology Browser
ectopia lentis with ectopia of pupil (DOID:0111648)
Alliance: disease page
Synonyms: ectopia lentis et pupillae
Alt IDs: OMIM:225200, MESH:C563268, UMLS_CUI:C1644196
Definition: An eye disease characterized by displacement of the lenses and the pupils in association with other ocular anomalies that has_material_basis_in homozygous or compound heterozygous mutation mutation in the ADAMTSL4 gene on chromosome 1q21.2.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory