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 SOX2 on chromosome 3q26.33.

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

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

: six6, sox2

OMIM:

OMIM:206900 - MICROPHTHALMIA, SYNDROMIC 3; MCOPS3

OMIM:206900 - MICROPHTHALMIA, SYNDROMIC 3; MCOPS3

Other Model Organisms: AGR, 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)