Preferred Name |
ring dermoid of cornea |
|
Synonyms |
RDC |
|
Definitions |
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. |
|
ID |
http://purl.obolibrary.org/obo/DOID_0111548 |
|
database_cross_reference |
SNOMEDCT_US_2023_03_01:723499000 MESH:C535684 UMLS_CUI:C1867155 GARD:9696 MIM:180550 ORDO:91481 |
|
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. |
|
has exact synonym |
RDC ring dermoid syndrome |
|
has material basis in | ||
has_obo_namespace |
disease_ontology |
|
id |
DOID:0111548 |
|
in_subset | ||
label |
ring dermoid of cornea |
|
notation |
DOID:0111548 |
|
prefLabel |
ring dermoid of cornea |
|
subClassOf |
Create mapping