Peters anomaly

Term ID

DOID:0060673

Synonyms

Definition

A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has_material_basis_in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3. (3)

References

• GARD:7377
• ICD10CM:Q13.4
• MESH:C537884
• OMIM:604229
• ORDO:708

Ontology

Human Disease   ( DOID:0060673 )