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syndromic microphthalmia 5
Summary
- Synonym
-
- MCOPS5
- syndromic microphthalmia type 5
- syndromic microphthalmia/anophthalmia due to OTX2 mutation
- 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.
- Super Class
- autosomal dominant disease syndromic microphthalmia
External Links
- Disease Ontology
- DOID:0111806
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
