| Metadata | |
|---|---|
| ID | DOID:0111801 |
| Name | syndromic microphthalmia 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. https://www.ncbi.nlm.nih.gov/pubmed/12612584, https://www.ncbi.nlm.nih.gov/pubmed/20803647 |
| Xrefs |
SNOMEDCT_US_2023_03_01:698851003 |
| Subsets |
DO_rare_slim |
| 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] microphthalmia and esophageal atresia syndrome [EXACT] SOX2 anophthalmia syndrome [EXACT] syndromic microphthalmia type 3 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |