syndromic microphthalmia 3

Term ID

DOID:0111801

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

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. (2)

References

• GARD:1443
• MESH:C565948
• OMIM:206900
• ORDO:77298
• SNOMEDCT_US_2023_03_01:698851003
• UMLS_CUI:C1859773

Ontology

Human Disease   ( DOID:0111801 )