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Summary Literature (0)
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 : six6, sox2


OMIM:
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)