| Metadata | |
|---|---|
| ID | DOID:0111548 |
| Name | ring dermoid of cornea |
| Definition | A corneal disease characterized by annular limbal dermoids with corneal and conjunctival extension that has_material_basis_in heterozygous mutation in the PITX2 gene on chromosome 4q25. https://www.ncbi.nlm.nih.gov/pubmed/15591271, https://www.ncbi.nlm.nih.gov/pubmed/7387508 |
| Xrefs |
SNOMEDCT_US_2023_03_01:723499000 |
| Subsets |
DO_rare_slim |
| Synonyms |
RDC [EXACT] ring dermoid syndrome [EXACT] |
| Parent Relationships |
is_a corneal disease |