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Metadata
DOID 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

GARD:7377

ICD10CM:Q13.4

MESH:C537884

OMIM:604229

ORDO:708

Subsets

DO_rare_slim

Relationships

is_a corneal disease

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