Preferred Name |
Peters anomaly |
Definitions |
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. |
ID |
http://purl.obolibrary.org/obo/DOID_0060673 |
database_cross_reference |
ICD10CM:Q13.4 MESH:C537884 GARD:7377 OMIM:604229 ORDO:708 |
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. |
has_obo_namespace |
disease_ontology |
id |
DOID:0060673 |
in_subset | |
label |
Peters anomaly |
notation |
DOID:0060673 |
prefLabel |
Peters anomaly |
subClassOf |