autosomal recessive isolated ectopia lentis 2

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Summary

Literature (0)

DOID:0111149 - autosomal recessive isolated ectopia lentis 2

Disease Ontology Definition:An isolated ectopia lentis that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21.

Synonyms: ECTOL2,

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

OMIM:

MIM:225100 - ectopia lentis 2, isolated, autosomal recessive; ectol2

MIM:225100 - ectopia lentis 2, isolated, autosomal recessive; ectol2

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), isolated ectopia lentis (is_a)