| Metadata | |
|---|---|
| ID | DOID:0060305 |
| Name | megalocornea |
| Definition | A corneal disease that is characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure and that has_material_basis_in mutation in the CHRDL1 gene. http://en.wikipedia.org/wiki/Megalocornea, https://www.ncbi.nlm.nih.gov/pubmed/6849653, http://ghr.nlm.nih.gov/gene/CHRDL1 |
| Xrefs |
SNOMEDCT_US_2023_03_01:204118005 |
| Subsets |
DO_rare_slim |
| Synonyms |
anterior megalophthalmos [EXACT] congenital anterior megalophthalmia [EXACT] |
| Parent Relationships |
is_a corneal disease |
| Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance |