autosomal recessive isolated ectopia lentis 2

Summary

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

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

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009152 - ectopia lentis 2, isolated, autosomal recessive

MONDO:0009152 - ectopia lentis 2, isolated, autosomal recessive

MIM:

MIM:225100 - ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE; ECTOL2

MIM:225100 - ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE; ECTOL2

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), isolated ectopia lentis (is_a)