ectopia lentis with ectopia of pupil

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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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: adamtsl4

Other Model Organisms: AGR, 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)