| Metadata | |
|---|---|
| ID | DOID:0111806 |
| Name | syndromic microphthalmia 5 |
| Definition | A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or clinical anophthalmia and variable additional features that has_material_basis_in heterozygous mutation in the OTX2 gene on chromosome 14q22.3. https://www.ncbi.nlm.nih.gov/pubmed/15846561 |
| Xrefs |
SNOMEDCT_US_2023_03_01:718761007 |
| Subsets |
DO_rare_slim |
| Synonyms |
MCOPS5 [EXACT] syndromic microphthalmia type 5 [EXACT] syndromic microphthalmia/anophthalmia due to OTX2 mutation [EXACT] |
| Parent Relationships |