loading...| Preferred Name |
Ring dermoid of cornea |
|
| Synonyms |
Ring dermoid syndrome |
|
| Definitions |
Ring dermoid of cornea is characterised 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 <i>PITX2</i> gene have been suggested as a potential cause of the condition. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_91481 |
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| alternative_term |
Ring dermoid syndrome |
|
| definition |
Ring dermoid of cornea is characterised 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. |
|
| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91481 |
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| has_age_of_onset |
Infancy Neonatal |
|
| has_inheritance |
Autosomal dominant |
|
| hasDbXref |
ICD-10:D31.1 UMLS:C1867155 ICD-11:2F36.Y MeSH:C535684 OMIM:180550 |
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| label |
Ring dermoid of cornea |
|
| notation |
ORPHA:91481 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_91481 |
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| prefLabel |
Ring dermoid of cornea |
|
| present_in |
Worldwide AND has_cases/families_value : 30.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 |
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| treeView | ||
| subClassOf |