syndromic microphthalmia 5

Term ID

DOID:0111806

Synonyms

• 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. https://www.ncbi.nlm.nih.gov/pubmed/15846561

References

• GARD:3692
• MESH:C566441
• OMIM:610125
• ORDO:178364
• SNOMEDCT_US_2023_03_01:718761007
• UMLS_CUI:C1864690

Ontology

Human Disease   ( DOID:0111806 )