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Summary Literature (0)
DOID:0111648 - ectopia lentis with ectopia of pupil

Disease Ontology 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.

Synonyms: ectopia lentis et pupillae

Xenbase Genes : adamtsl4



Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), eye disease (is_a)