FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term syndromic microphthalmia 3 ID (Ontology) DOID:0111801 (Human Disease)
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.
Also Known As "AEG syndrome" ; "anophthalmia clinical with associated anomalies" ; "anophthalmia esophageal genital syndrome" (for all, see Synonyms field below)
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 Genes
 syndromic microphthalmia 3       2
 for disease ribbon | syndromic microphthalmia 3       2
 model of | syndromic microphthalmia 3       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
microphthalmia                  |
 |__syndromic microphthalmia____|
                                syndromic microphthalmia 3  2 rec.
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Is a autosomal dominant disease
syndromic microphthalmia
Part of
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Synonyms
  • "AEG syndrome" EXACT
    "anophthalmia clinical with associated anomalies" EXACT
    "anophthalmia esophageal genital syndrome" EXACT
    "anophthalmia microphthalmia esophageal atresia" EXACT
    "anophthalmia/microphthalmia-esophageal atresia syndrome" EXACT
    "MCOPS3" EXACT OMO:0003012
    "microphthalmia and esophageal atresia syndrome" EXACT
    "SOX2 anophthalmia syndrome" EXACT
    "syndromic microphthalmia type 3" EXACT
Secondary IDs
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GARD:1443
MESH:C565948
MIM:206900
ORDO:77298
SNOMEDCT_US_2023_03_01:698851003
UMLS_CUI:C1859773