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 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. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0008387 |
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| database_cross_reference |
OMIM:180550 UMLS:C1867155 MESH:C535684 Orphanet:91481 SCTID:723499000 DOID:0111548 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. |
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| exactMatch |
http://purl.obolibrary.org/obo/DOID_0111548 http://identifiers.org/snomedct/723499000 http://purl.obolibrary.org/obo/Orphanet_91481 |
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| has characteristic | ||
| has material basis in germline mutation in | ||
| 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 |
|
| id |
MONDO:0008387 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare |
|
| label |
ring dermoid of cornea |
|
| notation |
MONDO:0008387 |
|
| prefLabel |
ring dermoid of cornea |
|
| seeAlso |
https://rarediseases.info.nih.gov/diseases/9696/ring-dermoid-of-cornea |
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| treeView | ||
| subClassOf |