loading...| Preferred Name |
ring dermoid of cornea |
|
| Synonyms |
Ring dermoid syndrome ring dermoid of cornea RING dermoid of cornea bilateral, annular limbal dermoids with corneal and conjunctival extension RDC |
|
| Definitions |
Ring dermoid of cornea is characterized by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0008387 |
|
| database_cross_reference |
DOID:0111548 SCTID:723499000 UMLS:C1867155 MESH:C535684 OMIM:180550 Orphanet:91481 GARD:9696 |
|
| definition |
Ring dermoid of cornea is characterized by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition. |
|
| exactMatch |
http://purl.obolibrary.org/obo/DOID_0111548 http://identifiers.org/snomedct/723499000 http://purl.obolibrary.org/obo/Orphanet_91481 |
|
| has_exact_synonym |
Ring dermoid syndrome ring dermoid of cornea |
|
| has_related_synonym |
RING dermoid of cornea bilateral, annular limbal dermoids with corneal and conjunctival extension RDC |
|
| id |
MONDO:0008387 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease |
|
| label |
ring dermoid of cornea |
|
| notation |
MONDO:0008387 |
|
| prefLabel |
ring dermoid of cornea |
|
| see also |
https://rarediseases.info.nih.gov/diseases/9696/ring-dermoid-of-cornea |
|
| subClassOf |