RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
AEG syndrome; Anophthalmia, Clinical, With Associated Anomalies; Anophthalmia-Esophageal-Genital Syndrome; MCOPS3; Microphthalmia And Esophageal Atresia Syndrome; SOX2-related eye disorders; Sox2 Anophthalmia Syndrome; anophthalmia microphthalmia esophageal atresia; anophthalmia/microphthalmia-esophageal atresia syndrome; syndromic microphthalmia type 3
narrow_synonym:
OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia | ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome
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