autosomal dominant isolated ectopia lentis 1

Summary

DOID:0111150 - autosomal dominant isolated ectopia lentis 1

Disease Ontology Definition:An isolated ectopia lentis that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21.

Synonyms: ECTOL1

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

: fbn1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007514 - ectopia lentis 1, isolated, autosomal dominant

MONDO:0007514 - ectopia lentis 1, isolated, autosomal dominant

MIM:

MIM:129600 - ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT; ECTOL1

MIM:129600 - ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT; ECTOL1

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), isolated ectopia lentis (is_a)