loading...| Preferred Name |
ring dermoid of cornea |
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| Synonyms |
Ring dermoid syndrome ring dermoid of cornea RDC RING dermoid of cornea bilateral, annular limbal dermoids with corneal and conjunctival extension |
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| 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 PITX2 gene have been suggested as a potential cause of the condition. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0008387 |
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| has characteristic | ||
| has_exact_synonym |
Ring dermoid syndrome ring dermoid of cornea |
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| has_related_synonym |
RDC RING dermoid of cornea bilateral, annular limbal dermoids with corneal and conjunctival extension |
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| label |
ring dermoid of cornea |
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| prefixIRI |
MONDO:0008387 |
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| prefLabel |
ring dermoid of cornea |
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/9696/ring-dermoid-of-cornea |
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| textual 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. |
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| subClassOf |