Search Ontology:
Human Disease

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
(all 9)
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
(all 6)
Ontology
Human Disease   ( DOID:0111801 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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