syndromic microphthalmia 3

Summary

DOID:0111801 - syndromic microphthalmia 3

Disease Ontology Definition:A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, with various extraocular symptoms that has_material_basis_in heterozygous mutation in the SOX2 gene on chromosome 3q26.33.

Synonyms: AEG syndrome, anophthalmia clinical with associated anomalies, anophthalmia esophageal genital syndrome, anophthalmia microphthalmia esophageal atresia, anophthalmia/microphthalmia-esophageal atresia syndrome, MCOPS3, microphthalmia and esophageal atresia syndrome, SOX2 anophthalmia syndrome, syndromic microphthalmia type 3

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

: six6, sox2

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), syndromic microphthalmia (is_a)