Metadata | |
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ID | DOID:0060673 |
Name | Peters anomaly |
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. https://www.ncbi.nlm.nih.gov/pubmed/11403040, https://www.ncbi.nlm.nih.gov/pubmed/12614756, https://www.ncbi.nlm.nih.gov/pubmed/8162071 |
Xrefs | |
Subsets |
DO_rare_slim |
Parent Relationships |
is_a corneal disease |